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Amino AcidsProtein SubunitsSequence Homology, Amino AcidAmino Acid SequenceMolecular Sequence DataCloning, MolecularMacromolecular SubstancesGTP-Binding Protein alpha SubunitsGTP-Binding ProteinsBase SequenceAmino Acid SubstitutionBinding SitesKineticsRecombinant ProteinsMutationProtein BindingProtein ConformationEscherichia coliSequence AlignmentGTP-Binding Protein alpha Subunits, Gi-GoMutagenesis, Site-DirectedProtein Structure, TertiaryMolecular WeightDNA, ComplementaryElectrophoresis, Polyacrylamide GelModels, MolecularCell LinePeptide FragmentsAmino Acid MotifsStructure-Activity RelationshipAmino Acids, EssentialRecombinant Fusion ProteinsTransfectionCattleAmino Acid Transport SystemsSequence Homology, Nucleic AcidDNARNA, Messengeralpha 1-AntitrypsinPeptidesGTP-Binding Protein alpha Subunits, G12-G13Substrate SpecificityCell MembraneHeterotrimeric GTP-Binding ProteinsRestriction MappingHypoxia-Inducible Factor 1, alpha SubunitBacterial ProteinsGuanosine 5'-O-(3-Thiotriphosphate)GTP-Binding Protein alpha Subunits, GsGene ExpressionPlasmidsSignal TransductionDNA PrimersIntegrinsTranscription, GeneticGTP-Binding Protein alpha Subunits, Gq-G11ProteinsReceptors, Adrenergic, alphaVirulence Factors, BordetellaLeucineMembrane ProteinsAdenosine Diphosphate RiboseAmino Acids, AromaticPhylogenyPolymerase Chain ReactionTrypsinRGS ProteinsConserved SequencePertussis ToxinCOS CellsMutagenesisSaccharomyces cerevisiaeSpecies SpecificityCarrier ProteinsOocytesAmino Acids, Branched-ChainBlotting, WesternGuanosine TriphosphateChromatography, High Pressure LiquidProtein Structure, SecondaryProtein Processing, Post-TranslationalDimerizationProtein BiosynthesisSequence Analysis, DNAAlanineAmino Acids, SulfurIsoenzymesGenes, BacterialPoint MutationBlotting, NorthernGenesCells, CulturedXenopus laevisCricetinaeChromatography, GelChromatography, AffinityPhosphorylationImmunoblottingTranscription FactorsReceptors, GABA-A
ProteinsProteinLuteinizing hormoneHydrophobic amino acidsGlycoprotein hormonesInterleukin-5 receptChain keto acid dehydrogenaseGonadotropinsFollicle-stimulaHormonesResiduesUnique to hCGGamma1990Deduced amino acid seqPolypeptideExtracellularMolecular WeightBindsGTPaseMRNACDNAHeterodimersLigandHybridizationCell surfaceEnzymesChorionic gonadotropinSeparate genesGeneHelicesSodiumNoncovalentHeterotrimericConsistsMotifsPathwaysChromosomesBindMetabolicPhysiologicalCytoplasmic1975SequencesTransmembraneSequence identity with mouseInhibitorPrimaryCofactorSynthesisPhosphorylateMutation
Proteins18
  • In order to investigate the role of this motif in the structure and function of sHsps, we have made constructs deleting this sequence from alpha A- and alpha B-crystallin, overexpressed, purified, and studied these engineered proteins. (nih.gov)
  • Glycerol density gradient centrifugation and dynamic light scattering studies show that the multimeric size of the mutant proteins is significantly reduced, indicating a role for this motif in higher order organization of the subunits. (nih.gov)
  • The protein attenuates the signaling activity of G-proteins by binding to activated, GTP-bound G alpha subunits and acting as a GTPase activating protein (GAP), increasing the rate of conversion of the GTP to GDP. (nih.gov)
  • Proteins were known to be composed of 20 distinct amino acids whereas DNA is composed of only 4 nucleotides. (proprofs.com)
  • In the early twentieth century, it was believed that proteins might carry genetic information because proteins were known to be composed of 20 distinct amino acids, whereas DNA is composed of only 4 nucleotides. (proprofs.com)
  • PERK works by phosphorylating a protein called eIF2 that is needed to start the translation of messenger RNA into strings of amino acids, which fold to form proteins. (elifesciences.org)
  • Did you know that the human body contains an estimated 100,000 different proteins, all due to the numerous ways that only 20 amino acids can combine? (visionlearning.com)
  • Proteins are large molecules made up of hundreds, even thousands, of amino acids combined in different ways. (visionlearning.com)
  • Proteins are polymers composed of building blocks called amino acids, of which life on Earth uses just twenty. (visionlearning.com)
  • Molecular bonds determine the structures of amino acids and proteins. (visionlearning.com)
  • Using techniques like electrophoresis and chromatography, Frederick Sanger discovered that proteins were built of specific amino acid sequences and that changing the sequence would make it a different protein. (visionlearning.com)
  • Proteins can have four types of structures: (1) Primary, the sequence of amino acids, (2) Secondary, hydrogen bonds among the strands of amino acids form beta sheets or alpha-helixes, (3) Tertiary, the three-dimensional, twisted structure based on bonding interactions between amino acid strands, and (4) Quartnerary, the complex structure made up of multiple folded subunits. (visionlearning.com)
  • Amino acids are essential basic building blocks of proteins. (visionlearning.com)
  • Today, we know that proteins are polymers composed of building blocks called amino acids (Figure 1). (visionlearning.com)
  • In fact, the Murchison meteorite (Figure 2), which fell in Australia in 1969, was found to contain seventy different amino acids , but life on Earth uses just twenty, but that's enough to create an astronomical number of possible proteins . (visionlearning.com)
  • The human body alone contains an estimated 100,000 different proteins , because of the numerous ways that the same 20 amino acids can combine. (visionlearning.com)
  • Mammalian Ric-8 proteins act as chaperones to regulate the cellular abundance of heterotrimeric G protein alpha subunits. (stanford.edu)
  • The GTPase-containing subunits of heterotrimeric GTP-binding proteins. (jefferson.edu)
Protein22
  • The two transmembrane portions of the protein are 20 amino acid long alpha helices that are both rich in hydrophobic amino acids. (wikipedia.org)
  • Amino acids 79-778 are cytoplasmic, 93% of the protein is cytoplasmic. (wikipedia.org)
  • Role of the conserved SRLFDQFFG region of alpha-crystallin, a small heat shock protein. (nih.gov)
  • This gene provides instructions for making one part, the alpha subunit, of a protein called polymerase gamma (pol γ). (medlineplus.gov)
  • This protein contains a conserved, 120 amino acid motif called the RGS domain and a cysteine-rich region. (nih.gov)
  • This hydrolysis allows the G alpha subunits to bind G beta/gamma subunit heterodimers, forming inactive G-protein heterotrimers, thereby terminating the signal. (nih.gov)
  • also alpha -PAK and p65-PAK) is both a cytoplasmic and nuclear 58-60 kDa member of PAK group I, STE20 subfamily, STE Ser/Thr protein kinase family of molecules. (rndsystems.com)
  • A phylogenetically conserved ribosomal protein L16p/L10e organizes the architecture of the aminoacyl tRNA binding site on the large ribosomal subunit. (rcsb.org)
  • IL-6 exerts its action via a cell surface receptor which consists of two subunits, an 80 kDa ligand binding subunit (gp80) of 468 amino acids and a 130 kDa signal transducing protein (gp130) of 896 amino acid residues. (thermofisher.com)
  • The IL6 receptor is a protein complex consisting of this protein and interleukin 6 signal transducer (IL6ST/GP130/IL6-beta), a receptor subunit also shared by many other cytokines. (thermofisher.com)
  • Two compounds, Compound 1 (1,4-dihydrophenanthrolin-4-one-3-carboxylic acid) and Compound 5 [8-(N-butyl-N-ethylcarbamoyl)-1,4-dihydrophenathrolin-4-one-3-carboxylic acid], with comparable potencies in vivo, were chosen to investigate the effect of the inhibition of the hydroxylation of newly synthesized uterine collagen on the turnover of this protein in vivo. (embl.de)
  • This control is propagated through the alpha-subunit of prolyl 4-hydroxylase where protein levels were previously shown to rise fivefold with increasing cell density. (embl.de)
  • The ATP1B2 protein is composed of 3 subunits: alpha (catalytic), beta and gamma. (neuromics.com)
  • eIF-2-alpha kinase GCN2;Eukaryotic translation initiation factor 2-alpha kinase 4;GCN2;GCN2 eIF2alpha kinase;GCN2-like protein;general control nonderepressible 2;PVOD2. (avivasysbio.com)
  • Metabolic-stress sensing protein kinase that phosphorylates the alpha subunit of eukaryotic translation initiation factor 2 (eIF-2-alpha/EIF2S1) on 'Ser-52' in response to low amino acid availability (PubMed:25329545). (avivasysbio.com)
  • Converts phosphorylated eIF-2-alpha/EIF2S1 either to a competitive inhibitor of the translation initiation factor eIF-2B, leading to a global protein synthesis repression, and thus to a reduced overall utilization of amino acids, or to a translational initiation activation of specific mRNAs, such as the transcriptional activator ATF4, and hence allowing ATF4-mediated reprogramming of amino acid biosynthetic gene expression to alleviate nutrient depletion. (avivasysbio.com)
  • Involved in cell cycle arrest by promoting cyclin D1 mRNA translation repression after the unfolded protein response pathway (UPR) activation or cell cycle inhibitor CDKN1A/p21 mRNA translation activation in response to amino acid deprivation (PubMed:26102367). (avivasysbio.com)
  • For this purpose, WIN 55,212-2 was injected in pregnant wistar rats from gestation day 5 to 20 and a detailed analysis of the levels of the neurotrophin brain-derived neurotrophic factor (BDNF) as well as of the signaling molecules extracellular signal-regulated kinase (ERK)1/2 and alpha-calcium/calmodulin-dependent protein kinase II (alpha-CaMKII) was carried out in adult offspring. (researchgate.net)
  • EcoRI is a 377-amino-acid protein with a molecular weight of 31 kDa. (vedantu.com)
  • The globular protein is made up of alpha helices, beta sheets, and 3/10 helices. (vedantu.com)
  • The GTP-Binding protein alpha subunits are grouped into families according to the type of action they have on second messenger systems. (jefferson.edu)
  • Below are the most recent publications written about "GTP-Binding Protein alpha Subunits" by people in Profiles. (jefferson.edu)
Luteinizing hormone3
  • Human follicle stimulating hormone (hFSH): first proposal for the amino acid sequence of the alpha-subunit (hFSHa) and first demonstration of its identity with the alpha-subunit of human luteinizing hormone (hLHa). (wikipedia.org)
  • The alpha subunit is essentially identical to the alpha subunits of the human pituitary gonadotropins, luteinizing hormone (LH) and follicle-stimulating hormone (FSH), as well as to the alpha subunit of human thyroid-stimulating hormone (TSH). (drugs.com)
  • The alpha-subunit is identical to that for luteinizing hormone (LH), follicle-stimulating hormone (FSH), and thyroid-stimulating hormone (TSH). (medscape.com)
Hydrophobic amino acids1
  • Here we show that substitution of glutamine for three clustered hydrophobic amino acids, Ile-1488, Phe-1489, and Met-1490, completely removes fast inactivation. (xenbase.org)
Glycoprotein hormones5
  • The subunits of pituitary thyrotropin--their relationship to other glycoprotein hormones. (wikipedia.org)
  • Glycoprotein Hormones, alpha Subunit" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings) . (wakehealth.edu)
  • the distinct functional characteristics of these glycoprotein hormones are determined by the unique beta subunits. (wakehealth.edu)
  • This graph shows the total number of publications written about "Glycoprotein Hormones, alpha Subunit" by people in this website by year, and whether "Glycoprotein Hormones, alpha Subunit" was a major or minor topic of these publications. (wakehealth.edu)
  • Below are the most recent publications written about "Glycoprotein Hormones, alpha Subunit" by people in Profiles. (wakehealth.edu)
Interleukin-5 recept5
  • Interleukin-5 Receptor alpha Subunit" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings) . (harvard.edu)
  • A low affinity interleukin-5 receptor subunit that combines with the CYTOKINE RECEPTOR COMMON BETA SUBUNIT to form a high affinity receptor for INTERLEUKIN-5. (harvard.edu)
  • Several isoforms of the interleukin-5 receptor alpha subunit exist due to multiple ALTERNATIVE SPLICING. (harvard.edu)
  • This graph shows the total number of publications written about "Interleukin-5 Receptor alpha Subunit" by people in Harvard Catalyst Profiles by year, and whether "Interleukin-5 Receptor alpha Subunit" was a major or minor topic of these publication. (harvard.edu)
  • Below are the most recent publications written about "Interleukin-5 Receptor alpha Subunit" by people in Profiles. (harvard.edu)
Chain keto acid dehydrogenase1
  • We establish and characterize the Bckdha ( branched chain keto acid dehydrogenase a ) −/− mouse that exhibits a lethal neonatal phenotype mimicking human MSUD. (nature.com)
Gonadotropins1
  • the alpha sub unit structure is common to other gonadotropins, for example luteinising hormone, but the beta sub unit of 145 amino acids is unique to hCG. (ibms.org)
Follicle-stimula1
Hormones4
  • The beta subunits of these hormones differ in amino acid sequence. (drugs.com)
  • The beta subunit of all these hormones differs greatly and is responsible for their respective specific hormone function. (southtees.nhs.uk)
  • HCG exists in a number of biologically active iso-hormones including the intact hormone and the free beta subunit. (southtees.nhs.uk)
  • By contrast, all the different beta-subunits are transcribed from separate genes, show less homology, and convey the receptor specificity of the dimeric hormones. (mayocliniclabs.com)
Residues6
  • 1992), A cluster of hydrophobic amino acid residues re. (xenbase.org)
  • A cluster of hydrophobic amino acid residues required for fast Na(+)-channel inactivation. (xenbase.org)
  • Amino acid residues required for fast Na(+)-channel inactivation: charge neutralizations and deletions in the III-IV linker. (xenbase.org)
  • We have determined the 2.5-A crystal structure of the human L10 core domain that corresponds to residues 34-182 of the full-length 214 amino acids. (rcsb.org)
  • The polar and nonpolar residues are organized on the inside and outside, with nonpolar amino acids on the inside and polar amino acids on the outside. (vedantu.com)
  • Moreover, cns does not read the subunit key, so you may need to renumber the residues by changepdb, command rr. (lu.se)
Unique to hCG1
  • hCG is a dimer consisting of a 145 amino acid beta-subunit that is unique to hCG and a 92 amino acid alpha-subunit. (medscape.com)
Gamma6
  • BPG does not bind well to gamma subunits of HbF. (flashcardmachine.com)
  • Cloning of cDNAs encoding the human gamma-aminobutyric acid type A receptor alpha 6 subunit and characterization of the pharmacology of alpha 6-containing receptors. (drugbank.com)
  • A cDNA encoding the human gamma-aminobutyric acidA (GABAA) receptor alpha 6 subunit has been cloned and sequenced. (drugbank.com)
  • Recombinant human alpha 6 beta gamma 2S GABAA receptors have been expressed in both stably transfected cells and Xenopus oocytes, and the pharmacology of the benzodiazepine binding site has been determined. (drugbank.com)
  • A number of compounds that bind to the benzodiazepine site potentiated the GABA response of alpha 6 beta 2 gamma 2 receptors. (drugbank.com)
  • They are composed of distinct but related alpha, beta and gamma chains. (embl.de)
19901
  • IFNAR1 is the low affinity subunit, originally cloned in 1990, and is composed of four fibronectin type II-like (FNII-like) subdomains, termed SD1-4. (wikidoc.org)
Deduced amino acid seq1
Polypeptide2
  • Microtubules are composed of heterodimeric subunits containing an alpha - and beta -tubulin polypeptide. (rndsystems.com)
  • ATP1B2 Human Recombinant produced in E.coli is a single, non-glycosylated polypeptide chain containing 246 amino acids (68-246) and having a molecular mass of 27.8kDa. (neuromics.com)
Extracellular3
  • TASK-1 channels are sensitive to a wide array of physiological and pharmacological mediators that affect their activity such as unsaturated fatty acids, extracellular pH, hypoxia, anaesthetics and intracellular signalling pathways. (ersjournals.com)
  • The alpha 2 extracellular domain (ECD) contains an I (inserted) domain which includes the ligand binding site (2, 3). (novusbio.com)
  • The 1102 amino acid (aa) human alpha 2 extracellular domain (ECD) shares 83‑89% aa sequence identity with mouse, rat, canine, bovine and equine alpha 2. (novusbio.com)
Molecular Weight1
Binds2
  • The 55 kDa IL-2 R alpha is specific for IL-2 and binds with low affinity. (rndsystems.com)
  • It only has one alpha subunit that binds to one DNA strand. (vedantu.com)
GTPase1
  • Hydrolysis of GTP by the inherent GTPase activity of the subunit causes it to revert to its inactive (heterotrimeric) form. (jefferson.edu)
MRNA1
  • In situ hybridization histochemistry reveals the alpha 6 mRNA to be located within the granule cell layer of the human cerebellar cortex. (drugbank.com)
CDNA2
  • Isolation, cloning and sequence analysis of the cDNA for the alpha-subunit of human chorionic gonadotropin. (wikipedia.org)
  • A full-length cDNA (Ov-phy-1) encoding a catalytically active alpha-subunit of Onchocerca volvulus prolyl 4-hydroxylase was isolated and characterized. (embl.de)
Heterodimers1
  • Both subunits, the non-covalently bound heterodimers, are required for full biologic activity. (wakehealth.edu)
Ligand4
  • Type I IFN receptor forms a ternary complex, composed of its two subunits IFNAR1 and IFNAR2, and a type I IFN ligand. (wikidoc.org)
  • Ligand binding to either subunit is required for and precedes dimerization and activation of the receptor. (wikidoc.org)
  • Each subunit of IFNAR contains an N-terminal ligand binding domain (with two or four fibronectin type II-like subdomains, for IFNAR2 and IFNAR1, respectively), a transmembrane (TM) domain, and a cytoplasmic domain. (wikidoc.org)
  • [7] Each type I IFN ligand contains a "hotspot", or a sequence of conserved amino acids that are involved in binding to the receptor, specifically the high affinity receptor IFNAR2, which determines the affinity of each ligand for the receptor. (wikidoc.org)
Hybridization1
  • These findings supported the contention that hybridization of subunits of different classes of GST is a likely occurrence. (cdc.gov)
Cell surface1
  • IFNAR is a heteromeric cell surface receptor composed of two subunits, referred to as the low affinity subunit, IFNAR1 , and the high affinity subunit, IFNAR2 . (wikidoc.org)
Enzymes4
  • It has been determined that the Arc system regulates as many as 30 genes, with repression of the following examples: cytochrome o oxidase, cytochrome d oxidase, and various gluconeogenic enzymes, such as for the glyoxylate cycle, and fatty acid oxidation. (wikipedia.org)
  • The derived amino acid sequence of Ov-phy-1 encoded a peptide that was most similar to the two Caenorhabditis elegans prolyl 4-hydroxylase homologues and to the isoform II enzymes of vertebrates. (embl.de)
  • The enzyme breaks the nucleic acid recognition sequence (EcoRI recognition sequence) G↓AATTC, which does have a palindromic, complementary sequence of CTTAA↓G. Certain restriction enzymes may leave 3' overhangs or blunt ends without any overhangs, based on their break sites (EcoRI recognition sequence). (vedantu.com)
  • Western blotting techniques were used with antibodies raised against human alpha, mu, and pi classes of GST enzymes. (cdc.gov)
Chorionic gonadotropin2
Separate genes1
  • The alpha and beta-subunits have separate genes on separate chromosomes (chromosomes 6 and 19, respectively). (medscape.com)
Gene4
  • Amino acids 134-234 have the DNA binding domain which can activate or suppress gene expression. (wikipedia.org)
  • Molecular cloning of the human thyrotropin-beta subunit gene. (wikipedia.org)
  • Here, based on significant liver contribution to the catabolism of the branched chain amino acid leucine, we develop a liver-directed adeno-associated virus (AAV8) gene therapy for MSUD. (nature.com)
  • This gene encodes a subunit of the interleukin 6 (IL6) receptor complex. (thermofisher.com)
Helices3
  • five alpha helices and one beta sheet. (wikipedia.org)
  • each subunit composed of 119 amino acids, five alpha helices, and six beta sheets. (wikipedia.org)
  • The alpha helices make up the majority of the protein's outside, while the 3/10 helices make up the majority of its inner. (vedantu.com)
Sodium4
  • If required, pH is adjusted with sodium hydroxide and/or phosphoric acid. (drugs.com)
  • A neutral amino acid change in segment IIS4 dramatically alters the gating properties of the voltage-dependent sodium channel. (xenbase.org)
  • Primary structure and functional expression of the beta 1 subunit of the rat brain sodium channel. (xenbase.org)
  • Caution: Sodium azide yields highly toxic hydrazoic acid under acidic conditions. (bdbiosciences.com)
Noncovalent2
  • Each is composed of an alpha- and a beta-subunit, coupled by strong noncovalent bonds. (mayocliniclabs.com)
  • After synthesis, the alpha and beta-subunits are bonded with a noncovalent bond before being released into the circulation. (medscape.com)
Heterotrimeric1
  • When dissociated from the heterotrimeric complex these subunits interact with a variety of second messenger systems. (jefferson.edu)
Consists3
Motifs1
  • Thus, our study shows that the SRLFDQFFG sequence is one of the critical motifs in structure-function regulation of alpha A- and alpha B-crystallin. (nih.gov)
Pathways1
Chromosomes1
Bind1
  • The I domain-containing beta 1 integrins ( alpha 1 beta 1, alpha 2 beta 1, alpha 10 beta 1 and alpha 11 beta 1) all bind collagens, with alpha 2 beta 1 preferring collagens I‑III (4, 5). (novusbio.com)
Metabolic3
  • This battery of measurements are used in the diagnosis and treatment of certain liver, heart, and kidney diseases, acid-base imbalance in the respiratory and metabolic systems, other diseases involving lipid metabolism and various endocrine disorders as well as other metabolic or nutritional disorders. (cdc.gov)
  • Together with pH determination, bicarbonate measurements are used in the diagnosis and treatment of numerous potentially serious disorders associated with acid-base imbalance in the respiratory and metabolic systems. (cdc.gov)
  • Maple syrup urine disease (MSUD) is a rare recessively inherited metabolic disorder causing accumulation of branched chain amino acids leading to neonatal death, if untreated. (nature.com)
Physiological1
  • Under physiological conditions, alpha- and beta-chain synthesis and secretions are tightly coupled, and only small amounts of monomeric subunits are secreted. (mayocliniclabs.com)
Cytoplasmic1
  • Each subunit then has a transmembrane sequence and a short cytoplasmic tail. (novusbio.com)
19751
  • The amino acid sequence of both sub units was established in 1975 by Francis Morgan and colleagues at Columbia University, New York. (ibms.org)
Sequences1
  • By comparing amino acid sequences of the N-terminal region of bovine ocular GSTs with those of human GST isozymes, a study was made of the structural relatedness of bovine ocular GST with human GST isozymes. (cdc.gov)
Transmembrane1
  • Integrin alpha 2 beta 1 is the non-covalent heterodimer of 160 kDa alpha 2 (CD49b) and 130 kDa beta 1 (CD29) type I transmembrane glycoprotein subunits and is one of six very late antigens on activated T cells, designated VLA2 (3). (novusbio.com)
Sequence identity with mouse1
  • Mature human IL-2 shares 56% and 66% amino acid (aa) sequence identity with mouse and rat IL-2, respectively. (rndsystems.com)
Inhibitor1
  • GC has a special place in cancer history, as it was the first condition successfully treated by chemotherapy when in 1958 Roy Hertz and Min Chiu Li at the National Institute of Health, Maryland developed the use of the folic acid inhibitor, methotrexate with great success (8, 9). (ibms.org)
Primary1
  • The primary structure of the alpha and beta subunits. (wikipedia.org)
Cofactor1
  • The availability of alpha -tubulin for microtubule formation is based on the ability of PAK1 to phosphorylate a alpha -tubulin chaperone, tubulin cofactor B. PAK1 is activated following binding to active GTPases which induce PAK autophosphorylation. (rndsystems.com)
Synthesis1
  • It drives resting T cells to proliferate and induces IL-2 and IL-2 R alpha synthesis (1, 2). (rndsystems.com)
Phosphorylate1
  • eIF2 contains three subunits, and the four kinases all phosphorylate the same serine 51 location within the alpha subunit ( Figure 1 ). (elifesciences.org)
Mutation2
  • The preceding report shows that deletions within the intracellular linker between domains III and IV remove inactivation, but mutation of conserved basic and paired acidic amino acids has little effect. (xenbase.org)
  • It is caused by mutation in the alpha subunit of the HEXOSAMINIDASE A resulting in lipid-laden ganglion cells. (curehunter.com)