• Hsu SY, Nakabayashi K, Bhalla A. Evolution of glycoprotein hormone subunit genes in bilateral metazoa: identification of two novel human glycoprotein hormone subunit family genes, GPA2 and GPB5. (biovendor.com)
  • Deletions of multiple GID subunits compromise cell proliferation, and this defect is accompanied by deregulation of critical cell cycle markers such as the retinoblastoma (Rb) tumor suppressor, phospho-Histone H3 and Cyclin A. We identify the negative regulator of pro-proliferative genes Hbp1 as a bonafide GID/CTLH proteolytic substrate. (elifesciences.org)
  • Both the alpha and beta subunit genes duplicated at some point during evolution," Maurino explains. (uni-bonn.de)
  • it is characterized by a defect in formation and stabilization of the alpha subunit active site. (medscape.com)
  • This complex interaction of the subunits leads to a preferential stabilization of states with zero, two or four ligands and suggests a dimeric organization of the activation process: within the dimers the cooperativity is positive, whereas it is negative between the dimers. (nature.com)
  • Modulation of sodium current in mammalian cells by an epilepsy-correlated beta 1-subunit mutation. (ox.ac.uk)
  • Coexpression of the WT beta 1 produces two effects on the sodium currents expressed in mammalian cells: the increase in the density of sodium channels, and the modulation of the inactivation of the sodium currents, inducing a hastening of the recovery from the inactivation. (ox.ac.uk)
  • Our observation suggests a possible involvement of this lack of modulation in the development of the GEFS+, providing the first hypothesis based on the observation of the functional properties of the beta 1-subunit C121W mutant in mammalian cells, which certainly represents a more physiological preparation, instead of in Xenopus oocytes, where the modulatory properties of the beta 1-subunit are artificially amplified. (ox.ac.uk)
  • Here, we identified all subunits of the mammalian GID/CTLH complex and provide a comprehensive map of its hierarchical organization and step-wise assembly. (elifesciences.org)
  • The muscle AChR is a pentamer of homologous subunits, with the stoichiometry α(2), β, δ and γ (fetal) or ε (adult) subunits. (jneurosci.org)
  • have suggested that the pentamer may be composed of two α subunits, two β subunits, and a single γ subunit. (aspetjournals.org)
  • It is thought that the ε subunit, like the δ subunit ( Saxena and Macdonald, 1994 ), is capable of replacing the γ subunit in the GABAR pentamer to form functional channels with distinct pharmacological and biophysical properties. (aspetjournals.org)
  • This gene encodes the beta subunit of the gastric H+, K+-ATPase. (nih.gov)
  • Renal expression of the gene encoding the gastric H(+)-K(+)-ATPase beta-subunit. (nih.gov)
  • This gene encodes a member of the proteasome B-type family, also known as the T1B family, that is a 20S core beta subunit. (nih.gov)
  • Studies link a gene cluster encoding for alpha 3 beta 4 alpha 5-D398N nicotinic acetylcholine receptors to lung cancer risk as well as link a second mutation in this cluster to an increased risk for nicotine dependence. (rti.org)
  • the beta subunit is encoded by the HEXB gene at band 5q13. (medscape.com)
  • The HBB gene provides instructions for making a protein called beta-globin. (medlineplus.gov)
  • In adults, hemoglobin consists of four protein subunits: usually two subunits of beta-globin and two subunits of a protein called alpha-globin, which is produced from another gene called HBA . (medlineplus.gov)
  • Hundreds of variants (also known as mutations) in the HBB gene have been found to cause beta thalassemia. (medlineplus.gov)
  • HBB gene variants that decrease beta-globin production result in a condition called beta-plus (β + ) thalassemia. (medlineplus.gov)
  • Variants in the HBB gene have been found to cause methemoglobinemia, beta-globin type, which is a condition that alters the hemoglobin within red blood cells. (medlineplus.gov)
  • In methemoglobinemia, beta-globin type, variants in the HBB gene alter the beta-globin protein and promote the heme iron to change from ferrous to ferric. (medlineplus.gov)
  • This form is caused by a particular variant in the HBB gene that results in the production of an abnormal version of beta-globin called hemoglobin S or HbS. (medlineplus.gov)
  • Variants in the HBB gene can also cause other abnormalities in beta-globin, leading to other types of sickle cell disease. (medlineplus.gov)
  • The syndrome of generalized epilepsy with febrile seizure plus (GEFS+) is associated with a single point mutation on the gene SCN1B that results in a substitution of the cysteine 121 with a tryptophane in the sodium channel beta 1-subunit protein. (ox.ac.uk)
  • In this study, we describe the development of homogeneous HEK-293 cell clones of alpha 3 beta 4 and alpha 3 beta 4 alpha 5 receptors appropriate for drug screening and characterizing biochemical and pharmacological properties of incorporated alpha 5 subunits. (rti.org)
  • Whereas alpha 5 subunit expression decreased the cell calcium response to nicotine and reduced plasma membrane receptor number, it partially protected receptors from nicotine mediated desensitization. (rti.org)
  • Role of the beta subunit in determining the pharmacology of human gamma-aminobutyric acid type A receptors. (aspetjournals.org)
  • By expressing recombinant human GABAA receptors containing different beta subunits (beta 1, beta 2 or beta 3) in both transfected cells and Xenopus oocytes, we have been able to determine the influence of the beta subunit on the pharmacology of the receptor. (aspetjournals.org)
  • The gastric H+, K+-ATPase is a heterodimer consisting of a high molecular weight catalytic alpha subunit and a smaller but heavily glycosylated beta subunit. (nih.gov)
  • Radiolabeling and immunoprecipitation studies revealed that three of the six neonatal onset GA II patients had greatly diminished or absent alpha- and beta-ETF subunits, consistent with a failure to assemble a stable heterodimer. (jci.org)
  • These hormones consist of two subunits, the common alpha- and specific beta-subunits, which associate noncovalently to form a heterodimer. (biovendor.com)
  • Corticotroph-derived glycoprotein hormone (CGH), also referred to as thyrostimulin, is a noncovalent heterodimer of glycoprotein hormone alpha 2 (GPHA2) and glycoprotein hormone beta 5 (GPHB5). (biovendor.com)
  • Thyrostimulin, a heterodimer of two new human glycoprotein hormone subunits, activates the thyroid-stimulating hormone receptor. (biovendor.com)
  • A cDNA encoding the human gamma-aminobutyric acid (GABA)A receptor beta 2 subunit has been cloned and sequenced. (aspetjournals.org)
  • A new γ-aminobutyric acid (GABA) A receptor (GABAR) subunit class, ε, has recently been cloned and shown to form functional channels when coexpressed with both α and β subunits. (aspetjournals.org)
  • We report that the combination of α1β3ε subunit subtypes expressed in L929 cells produced functional chloride ion channels that were both spontaneously active and gated by the application of extracellular GABA. (aspetjournals.org)
  • These data extend the pharmacological characterization of ε-containing GABARs and demonstrate that incorporation of the ε subunit permits spontaneous channel gating while preserving the structural information necessary for GABA sensitivity. (aspetjournals.org)
  • The antibody was raised in rabbits by immunization with the recombinant Human Thyrostimulin beta subunit. (biovendor.com)
  • The immunization antigen (13.34 kDa) is a protein containing 120 AA of recombinant Human Thyrostimulin beta subunit. (biovendor.com)
  • Immunoaffinity chromatography on a column with immobilized recombinant Human Thyrostimulin beta subunit. (biovendor.com)
  • Heterogeneity in beta-oxidation flux, polypeptide synthesis, and complementary DNA mutations in the alpha subunit of electron transfer flavoprotein in eight patients. (jci.org)
  • Another neonatal onset patient showed normal synthesis of beta-ETF but decreased synthesis of alpha-ETF. (jci.org)
  • Two neonatal onset and two late onset GA II patients showed normal synthesis of both subunits. (jci.org)
  • EC 3.2.1.52), the beta subunits of Hex A (EC 3.2.1.52), and the G M2 activator protein. (medscape.com)
  • Beta-globin is a component (subunit) of a larger protein called hemoglobin, which is located inside red blood cells. (medlineplus.gov)
  • The variant that causes hemoglobin S changes a single protein building block (amino acid) in beta-globin. (medlineplus.gov)
  • Particularly in yeast, an organism where gluconeogenesis and glycolytic activity are intermittently coordinated, the multi-subunit GID E3 ligase complex specifically targets the surplus of gluconeogenic enzymes, including the conserved Fructose-1,6-bisphosphatase 1 (Fbp1), for proteasomal degradation. (elifesciences.org)
  • The beta subunit apparently prevents the two enzymes from getting in each other's way. (uni-bonn.de)
  • We demonstrated an incorporation of two alpha 3 subunits in approximately 98% of plasma membrane receptor pentamers, indicating a 2/3 subunit expression ratio of alpha 3 to beta 4 alone or to coexpressed beta 4 and alpha 5. (rti.org)
  • The roles of carbohydrate chains of the beta-subunit on the functional expression of gastric H(+),K(+)-ATPase. (nih.gov)
  • The alpha-subunit combines with four distinct beta-subunits giving rise to four biologically active hormones in human: FSH, LH, TSH, and CG. (biovendor.com)
  • For a number of benzodiazepine binding site compounds, a barbiturate, and several neurosteroids, neither the affinity nor the efficacy of the compounds is influenced by the type of beta subunit present in the receptor molecule. (aspetjournals.org)
  • Problems with the subunits that make up hemoglobin, including low levels of beta-globin, reduce or eliminate the production of this molecule. (medlineplus.gov)
  • The alpha subunit is similar in LH, FSH, TSH, and HCG, while the beta subunits differs among the hormones. (medscape.com)
  • Hit compounds from both libraries suggest the alpha 5 and alpha 5-D398N subunits allosterically modify the behavior of nicotine at the parent alpha 3 beta 4 nicotinic acetylcholine receptor. (rti.org)
  • Indeed, we have shown previously that mutation of a tyrosine phosphorylation site in the long cytoplasmic loop of the β subunit impairs agrin-induced cytoskeletal anchoring and aggregation of mutant AChR in muscle cells ( Borges and Ferns, 2001 ). (jneurosci.org)
  • We have studied, in the HEK cells permanently transfected with the skeletal muscle sodium channel alpha-subunit (SkM1), the effects of a transient transfection of the wild type (WT) or C121W mutant beta 1-subunit. (ox.ac.uk)
  • β-Hexosaminidase B (Hex B) is a dimer of beta chains. (medscape.com)
  • Cloning and expression of a human pro(tea)some beta-subunit cDNA: a homologue of the yeast PRE4-subunit essential for peptidylglutamyl-peptide hydrolase activity. (nih.gov)
  • These data suggest that the beta subunit does not significantly influence the benzodiazepine, barbiturate, or steriod site pharmacologies of human GABAA receptor subtypes. (aspetjournals.org)
  • FSH and LH are composed of alpha and beta subunits. (medscape.com)
  • Clones were assessed for plasma membrane expression of the individual receptor subunits by mass spectrometry and immunochemistry, and their calcium flux was measured in the presence of a library of kinase inhibitors and a focused library of acetylcholine receptor ligands. (rti.org)
  • Together, these findings suggest that agrin-induced phosphorylation of the β subunit motif increases the stoichiometry of rapsyn binding to the AChR, thereby helping to stably cluster the receptor and anchor it at high density in the postsynaptic membrane. (jneurosci.org)
  • As measured by 3H-fatty acid oxidations in fibroblasts, beta-oxidation pathway flux correlated well with clinical phenotypes. (jci.org)
  • The signs and symptoms of methemoglobinemia, beta-globin type are generally limited to cyanosis, which does not cause any health problems. (medlineplus.gov)
  • While the alpha unit is responsible for CO2 release, the beta subunit serves primarily to regulate the activity of the enzyme. (uni-bonn.de)
  • The specific beta subunit confers the unique biologic activity. (medscape.com)
  • Replacing glutamic acid with valine causes the abnormal hemoglobin S subunits to stick together and form long, rigid molecules that bend red blood cells into a sickle (crescent) shape. (medlineplus.gov)
  • Using chimeric proteins in which CD4 is fused to the large intracellular loop of each of the AChR subunits we found that agrin induced clustering of only chimeras containing the β subunit loop. (jneurosci.org)
  • Variants that prevent cells from producing any beta-globin result in beta-zero (β 0 ) thalassemia. (medlineplus.gov)
  • Each subunit has a large intracellular loop between the third and fourth transmembrane domains that is the likely site for regulated interactions with postsynaptic scaffolding proteins. (jneurosci.org)
  • According to the study, NAD-ME consists of two large building blocks, the alpha and the beta subunit. (uni-bonn.de)
  • A site on the alpha subunit acts against negatively charged sulfated substrates, while a site on the beta subunit acts against neutral water-soluble substrates. (medscape.com)
  • Take a look at our BETA site and see what we've done so far. (abcam.com)