Gene beta hexosaminidase beta chain. Medical search. Frequent questions

There are numerous mutations that lead to hexosaminidase A deficiency including gene deletions, nonsense mutations, and missense mutations. (wikipedia.org)
Hexosaminidase activator deficiency is caused by absence or defects of the hexosaminidase activator. (medscape.com)
Type AB G M2 gangliosidosis is also known as hexosaminidase activator deficiency. (medscape.com)
point stop mutations), hemophilia ( A , B ), phenylketonuria -PKU (point mutation), Duchenne muscular dystrophy (DMD) , adenosine deaminase (ADA) deficiency causing severe combined immune deficiency (SCID), Tay-Sachs disease (hexosaminidase A deficiency). (dorak.info)
inherited disorders of metabolism, caused by hexosaminidase deficiency that causes severe neurologic symptoms and early death. (msdmanuals.com)
Deficiency of hexosaminidase A results in accumulation of GM2 in the brain. (msdmanuals.com)
There is a combined hexosaminidase A and B deficiency. (msdmanuals.com)
In this study, we used comparative transcriptomics to identify differentially expressed genes underlying cln5 -deficiency phenotypes during growth and the early stages of multicellular development. (frontiersin.org)
Overall, this study reveals the impact of cln5 -deficiency on gene expression in D. discoideum , provides insight on the genes and proteins that play a role in regulating Cln5-dependent processes, and sheds light on the molecular mechanisms underlying CLN5 disease. (frontiersin.org)

whereas, mutations in the gene encoding the alpha subunit (HEXA, this gene) decrease the hydrolysis of GM2 gangliosides, which is the main cause of Tay-Sachs disease. (wikipedia.org)
Although Pelizaeus-Merzbacher disease and X-linked spastic paraplegia type 2 are nosologically distinguished, they are at opposite ends of a clinical spectrum of X-linked diseases caused by mutations of the same gene, the proteolipid protein 1 (PLP1) gene, and result in defective central nervous system (CNS) myelination (see the image below). (medscape.com)
The most common mutations that cause Pelizaeus-Merzbacher disease are duplications of a region of the X chromosome that includes the entire PLP1 gene. (medscape.com)
Splicing mutations are now recognized as quite common and may account for almost 20% of point mutations in the PLP1 gene. (medscape.com)
Krabbe disease is caused by mutations in the GALC gene (mapped to chromosome 14q) which encodes galactocerebrosidase, an enzyme that degrades galactosylceramide, a normal constituent of myelin. (radiopaedia.org)
While most of the CLN genes have been studied, the precise cellular mechanisms impacted by CLN gene mutations remain elusive. (frontiersin.org)

Hexosaminidase A (alpha polypeptide), also known as HEXA, is an enzyme that in humans is encoded by the HEXA gene, located on the 15th chromosome. (wikipedia.org)
The alpha subunit polypeptide is encoded by the HEXA gene while the beta subunit is encoded by the HEXB gene. (wikipedia.org)
The HEXA gene is a protein encoding gene that codes for the lysosomal enzyme beta-hexosaminidase. (wikipedia.org)
Defects in the HEXA gene, however, prevent this degradation, leading to a buildup of toxins in brain and spinal cord cells. (wikipedia.org)
Because the Tay-Sachs gene defect mainly affects neural cells, a patient with the HEXA mutation will experience a quick deterioration of motor and mental function before dying around the age of three or four. (wikipedia.org)
8] A "knockout" model, which is a mouse that has been genetically modified to observe the effects of inactivation of or damage to certain genes, found that the mice that were administered the HEXA gene experienced many of the same symptoms of Tay-Sachs, with one exception: GM2 buildup was distributed differently in the brains of the mice than in those of a typical human Tay-Sachs patient. (wikipedia.org)
9] This model has allowed scientists to research gene therapies for HEXA defects. (wikipedia.org)
The hexA and hexB genes encode the alpha- and beta-subunits of the two major beta-N-acetylhexosaminidase isoenzymes, N-acetyl-beta-D-hexosaminidase A (HexA) and beta-N-acetylhexosaminidase B (HexB). (unl.edu)

Fucosidosis is caused by a mutation in the FUCA1 gene on chromosome 1p34, which is inherited in an autosomal recessive fashion 1-5 . (radiopaedia.org)
In Cri-Du-Chat syndrome (5p deletion), the genetic basis of the phenotype is haploinsufficiency for the telomerase reverse transcriptase gene ( TERT ), which is included in the deleted part of chromosome 5. (dorak.info)

the beta subunit is encoded by the HEXB gene at band 5q13. (medscape.com)

Hexosaminidase A is a heterodimer composed of an alpha subunit (this protein) and a beta subunit. (wikipedia.org)
Even though the alpha and beta subunits of hexosaminidase A can both cleave GalNAc residues, only the alpha subunit is able to hydrolyze GM2 gangliosides. (wikipedia.org)
The loop is absent in the beta subunit, but it serves as an ideal structure for the binding of the GM2 activator proteinM2(GM2AP) in the alpha subunit. (wikipedia.org)
Isolation of cDNA clones coding for the alpha-subunit of human beta-hexosaminidase. (wikipedia.org)
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)
It is caused by mutation in the alpha subunit of the HEXOSAMINIDASE A resulting in lipid-laden ganglion cells. (curehunter.com)
The basic subunit of beta-crystallins. (lookformedical.com)
Finally, consistent with the differential expression of genes associated with proteasomal degradation in cln5 - cells, we also observed elevated amounts of a proteasome subunit and reduced proteasome 20S activity during cln5 - growth and starvation. (frontiersin.org)

The GH20 hexosaminidases are thought to act via a catalytic mechanism in which the catalytic nucleophile is not provided by the solvent or the enzyme, but by the substrate itself. (unl.edu)
According to the Mayo Clinic, Tay-Sachs disease occurs when there is an absence of an enzyme, Hex A(Beta-Hexosaminidase A), which helps with breaking down fatty substances called gangliosides.This accumulation of gangliosides results in build up of toxic levels in the brain and spinal cord and affect the function of nerve cells. (elioacademy.org)
β-galactosidase , also called lactase , beta-gal or β-gal , is a glycoside hydrolase enzyme that catalyzes the hydrolysis of β-galactosides into monosaccharides through the breaking of a glycosidic bond . (wikidoc.org)
Many adult humans lack the lactase enzyme, which has the same function of beta-gal, so they are not able to properly digest dairy products. (wikidoc.org)
Beta-galactose is used in such dairy products as yogurt, sour cream, and some cheeses which are treated with the enzyme to break down any lactose before human consumption. (wikidoc.org)

Hexosaminidase A and the cofactor GM2 activator proteinM2catalyze the degradation of the GM2 gangliosides and other molecules containing terminal N-acetyl hexosamines. (wikipedia.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)
During the process of mannitol suppressing NSC proliferation, the expression of AQP4 mRNA and protein was downregulated, while the gene expression of p-p38 was elevated by reverse transcription polymerase chain reaction, immunostaining, and western blotting assays. (bvsalud.org)
In hypermobility type of Ehlers-Danlos syndrome , haploinsufficiency (where one copy is unable to produce the protein in sufficient quantity) due to a 30-kb deletion of tenascin-X (TNXB) gene is responsible for the disease. (dorak.info)
first patterns( progeny, class, protein lifetime, and complex anion) be depending genes: NF-kappaB is silenced via list catabolism C octanoyl, RAS has required via RasGRP cells, NF-AT creates coupled via Tumor, and AKT( PKB) methylates achieved via PDK1( involved in Shinohara and Kurosaki 2009, Stone 2006). (erik-mill.de)
FMF is caused by a mutation in the gene MEFV, which codes for the protein pyrin. (elioacademy.org)
During growth, genes associated with protein ubiquitination/deubiquitination, cell cycle progression, and proteasomal degradation were affected, while genes linked to protein and carbohydrate catabolism were affected during early development. (frontiersin.org)
Proteoglycans are characterized by a core protein that is covalently linked to glycosaminoglycan (GAG) side chains and are components of the extracellular matrix of insect [15,16] and mammalian tissues [17]. (greatlakeshighereducationnow.com)

It is also estimated that each human being is a carrier of around five recessive lethal genes and perhaps even more recessive disease genes, which may pose risk for the offspring of related individuals (such as cousin marriages). (dorak.info)
Autosomal Recessive Genetic disorders determined by a single gene (Mendelian disorders) are easiest to analyze and the most well understood. (msdmanuals.com)

Pediatric reference data on activity of urinary N-acetyl-beta-D-hexosaminidase and its isoenzymes. (edu.pl)

[10] [11] A cell that switches to the biofilm mode of growth undergoes a phenotypic shift in behavior in which large suites of genes are differentially regulated . (wikipedia.org)

The order of amino acids as they occur in a polypeptide chain. (lookformedical.com)
Mammalian P-gp homologs arise from the folding of a single polypeptide chain that is transcribed and translated in the order: (N-term) TMD1-NBD1-TMD2-NBD2 (C-term). (unscburma.org)

No differences were observed between groups receiving ISG or placebo in the incidence time-course or magnitude of viremia measured by quantitative polymerase chain reaction. (biongenex.com)

The absence turn SYK is the reactive activation such acids( ITAMs) on the extrahepatic substrates of Ig-alpha( CD79A, MB-1) and Ig-beta( CD79B, B29)( Wienands et al. (erik-mill.de)
1S C 8S C novel GCPII dipeptidic substrates featuring nonpolar aliphatic side chain at the P1 position. (institutopsicofarmacologia.com)
values in the series follow the general trend observed for the parent substrates, with the inhibitor potency increasing with the elongation of the P1 side chain. (institutopsicofarmacologia.com)

Carrier screening is a term used to describe genetic testing that is performed on an individual who does not have any overt phenotype for a genetic disorder but may have one variant allele within a gene(s) associated with a diagnosis. (acog.org)
If expression of a trait requires only one copy of a gene (one allele). (msdmanuals.com)

Notably, cln5 - cells displayed reduced β-hexosaminidase activity, which aligns with previous work showing that D. discoideum Cln5 and human CLN5 can cleave the substrate acted upon by β-hexosaminidase. (frontiersin.org)

the substrate with the shortest amino acid side chain, and gradual extension of the hydrocarbon side-chain of the C-terminal amino acid resulted in the monotonic improvement of the overall catalytic efficiency. (institutopsicofarmacologia.com)

Beta 2-microglobulin is present in small amounts in serum, csf, and urine of normal people, and to a much greater degree in the urine and plasma of patients with tubular proteinemia, renal failure, or kidney transplants. (lookformedical.com)
Reference data on neonatal serum N-acetyl-beta-hexosaminidase activity. (edu.pl)

We demonstrated that rat peritoneal mast cells expressed PAR-1 and PAR-2 mRNA, and that PAR-2AP (tc-LIGRLO-NH(2), 1 microm) induced 64.2 +/- 4.4% specific beta-hexosaminidase release from peritoneal mast cells, whereas another PAR-2AP (SLIGRL-NH(2), 10 microM), trypsin (40 U/ml), and mast cell tryptase (1.5 microg/ml) did not. (lvhn.org)
Moreover, removal of sialic acid from peritoneal mast cells, using neuraminidase (2 U/ml), inhibited Cit- (10 microM, 52%) and tc-LIGRLO-NH(2) (0.5 microM, 29%)-mediated beta-hexosaminidase release. (lvhn.org)
Genes down-regulated in comparison of mast cells versus macrophages. (gsea-msigdb.org)

The proteins exist as large oligomers that are formed from ALPHA-CRYSTALLIN A CHAIN and ALPHA-CRYSTALLIN B CHAIN subunits. (lookformedical.com)
A functionally uncharacterized subgroup of the Glycosyl hydrolase family 20 (GH20) catalytic domain found in proteins similar to the chitobiase of Serratia marcescens, a beta-N-1,4-acetylhexosaminidase that hydrolyzes the beta-1,4-glycosidic linkages in oligomers derived from chitin. (unl.edu)
2010). The Foxa proteins can function as pioneer transcription factors, which by binding silent (condensed) chromatin early in a developmental programme prior to target gene activation, can act either to open up local chromatin, imparting competence to other transcriptional activators to initiate a developmental lineage or to directly facilitate other factors binding to nucleosomal DNA (Iwafuchi-Doi et al. (niepokorny.org)

Normal products of all 3 genes are required for normal catabolism of the G M2 ganglioside substrate. (medscape.com)
Mature B cells do IgM and IgD events which play purchased at the adhesion injury with Ig-alpha( CD79A, MB-1) and Ig-beta( CD79B, B29) to refer the B substrate migration( BCR)( Fu et al. (erik-mill.de)
More importantly, though, the C-terminal methionine in the GCPII/9I complex (together with surrounding GCPII side chains) spatially overlaps with the corresponding part of NAAM, its parent substrate (Figure 3). (institutopsicofarmacologia.com)

PKU can be caused by 400 different known variants in the PAH gene. (elioacademy.org)

Hex A is a dimer and has the structure alpha-beta. (medscape.com)
Alpha, beta, and delta crystallins occur in avian and reptilian lenses, while alpha, beta, and gamma crystallins occur in all other lenses. (lookformedical.com)
This gene encodes for alpha-L-fucosidase, which normally catalyzes the breakdown of various fucose-containing oligosaccharides, glycoproteins, and glycolipids 1,2,5 . (radiopaedia.org)
Both the alpha and the beta catalytic subunits have a TIM-barrel fold and belong to the glycosyl hydrolase family 20 (GH20). (unl.edu)
inhibiting of download to the translesion is cell of cartilage dependent PLP members( ITAMs) in the Standard cells of Ig-alpha and Ig-beta by Src phophorylate energy pathways, missing LYN, FYN, and BLK( Nel et al. (erik-mill.de)

Ig genes including large chains A, G, and M and light chains and were induced at 3C4 wk in every animals highly. (newyorkcityhightech.com)
The former possess become diagnostic laboratory biomarkers of the cardiac damage recognized in blood and urine (elizabeth.g., troponin, myosin light chains). (technologybooksindustrialprojectreports.com)
heavy and light chains affords the bivalent expression of up to four different peptides. (techuniq.com)

It is also known as the B variant (with increased HEXOSAMINIDASE B but absence of hexosaminidase A) and is strongly associated with Ashkenazic Jewish ancestry. (curehunter.com)

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. (mousephenotype.org)
Most single gene disorders can be investigated by prenatal diagnosis using DNA extracted from cells obtained from amniocentesis at 16-18 weeks' gestation or chorionic villus sampling (CVS) at about 10-12 weeks' gestation. (dorak.info)
In single gene disorders (as opposed to multifactorial-complex disorders), the mutation's population frequency is low, its penetrance is high, and the contribution of environment is lower with notable exceptions of PKU and few others. (dorak.info)

Association of cerebral amyloid-beta aggregation with cognitive functioning in persons without dementia. (edu.pl)

Beta-N-acetylhexosaminidases of glycosyl hydrolase family 20 (GH20) catalyze the removal of beta-1,4-linked N-acetyl-D-hexosamine residues from the non-reducing ends of N-acetyl-beta-D-hexosaminides including N-acetylglucosides and N-acetylgalactosides. (unl.edu)
In the case of methionine, more than 40% of the overall interaction energy (-11.1 kcal.mol-1) with the neighboring residues comes from the interaction with Asn257 side chain (-4.8 kcal.mol-1). (institutopsicofarmacologia.com)
Other nonpolar residues contribute by -1.5 kcal.mol-1 per residue with the exception of the nonpolar part of the Lys699 side chain (modeled as CH3(CH2)2CH3) that contributes negligibly. (institutopsicofarmacologia.com)

Pets with severe HCV an infection generally display minimal activation of the gene pieces, possibly reflecting less lymphocytic infiltration of the liver (13, 15). (newyorkcityhightech.com)

The chitobiase of Serratia marcescens is a beta-N-1,4-acetylhexosaminidase with a glycosyl hydrolase family 20 (GH20) domain that hydrolyzes the beta-1,4-glycosidic linkages in oligomers derived from chitin. (unl.edu)

No human diseases associated to this gene by orthology or annotation . (mousephenotype.org)

In order to elucidate the role of Aquaporin 4 (AQP4) in the suppressive effect of mannitol on NSC proliferation, various assays including reverse transcription polymerase chain reaction, western blotting, and immunocytochemistry were conducted on control and mannitol-treated groups. (bvsalud.org)

The GH20 enzymes include the eukaryotic beta-N-acetylhexosaminidases A and B, the bacterial chitobiases, dispersin B, and lacto-N-biosidase. (unl.edu)

β-Hexosaminidase B (Hex B) is a dimer of beta chains. (medscape.com)

Interestingly, the first genome-wide CRISPR interference/activation screens to discover susceptibility genes of oxidative stress in induced pluripotent stem cell (iPSC)-derived human neurons identified PSAP. (nature.com)
While multiple systems potentially take into account the increased loss of TRIII manifestation in these human being malignancies, including lack of heterozygocity from the gene and epigenetic rules (11C13), we'd also determined TGF-1-mediated repression of TRIII message amounts inside a breasts cancers model (11). (accessibletech4all.org)
The used of a comprehensive dataset of gene profiles from all the major human leukocyte subsets enabled a novel and powerful means for identification of genes associated with single leukocyte subsets, or different immune paradigms. (gsea-msigdb.org)
In recent years, beta-galactosidase has been researched as a potential treatment for lactose intolerance through gene replacement therapy where it could be placed into the human DNA so individuals can break down lactose on their own. (wikidoc.org)
In the present study we examined the relationship between ceramide, ceramide metabolites and expression of the MDR1 gene in human breast cancer cell lines. (sphingolipidclub.com)

Equation 1) Each sample was analyzed at least in duplicate for each target gene for each tissue sample. (biongenex.com)
Standard paradigms for qRT-PCR analyses assign maximum TPCA-1 CT ideals (e.g. >45 cycles) to samples with undetectable target gene manifestation. (biongenex.com)
Here analyses integrated a multiple imputation algorithm which selects random values from the lower tail of the distribution rather than assigning a fixed value of zero to samples with target gene manifestation below the lower limit of quantification (LOQ). (biongenex.com)

These qualify walls view services genomic as watching a free real bodies a property to be it for newfeed-in, n't here complete the beta-galactosidase over a other ingredient. (oldandelegant.com)
Beta-galactosidase has many homologues based on similar sequences. (wikidoc.org)
A few are evolved beta-galactosidase (EBG), beta-glucosidase , 6-phospho-beta-galactosidase, beta-mannosidase, and lactase-phlorizin hydrolase. (wikidoc.org)

We validated the microarray results by comparing them with quantitative RT-PCR (qRT-PCR) measurements of ISG15 and -4 additional gene transcripts in the liver, noting a high level of correlation for each (Table S2). (newyorkcityhightech.com)

supposed directed expectations and free real bodies of concept skills( MMPs) may illegally stop map TGF-beta pp.. multiple term of retinoic 1- and structural ceremonies in the vivo everything by new program stuff factor. (oldandelegant.com)

Foxa1 and Foxa2 regulated the expression of many genes encoding splicing factors and regulators, including and locus, and requires TCR signalling: positive selection results in appropriate MHC restriction of SP cells, and is followed by negative selection of potentially self-reactive clones and selection of regulatory T cells (Tregs) (Huynh et al. (niepokorny.org)
2011). Additionally, epigenetic processes, such as DNA methylation and histone modification, may be involved in locking-in the pattern of gene expression to generate stable CD4SP and CD8SP Benzamide lineages (Issuree et al. (niepokorny.org)
Foxa2 has recently also been shown to demethylate tissue-specific regions of DNA, to generate stable lineage-specific DNA methylation patterns that enhance gene expression (Reizel et al. (niepokorny.org)
TIGIT can inhibit CD8+ T cell proliferation and activation by directly acting on TCR expression itself as engagement of TIGIT induces a down-regulation of the TCR- chain and molecules that comprise the TCR complex (18). (greatlakeshighereducationnow.com)
The impact of sphingolipids on MDR1 gene expression in cancer appears to reflect the myriad intracellular signaling pathways of ceramide and its metabolites. (sphingolipidclub.com)

Tay-Sachs disease occurs when hexosaminidase A loses its ability to function. (wikipedia.org)
Some patients with Pelizaeus-Merzbacher disease have been found to have 3 or more copies of the PLP1 gene. (medscape.com)

TRI recruits then, phosphorylates and activates the Smad2/3 transcription elements, which type a complex using the co-Smad and Smad4, and translocate like a complex in to the nucleus to modify transcription of TGF-responsive genes (3). (accessibletech4all.org)
In the present study we used Affymetrix oligonucleotide microarrays to produce gene transcription profiles for the major leukocyte types in humans. (gsea-msigdb.org)

What Genes and Disorders Are Targeted? (centogene.com)

Anatomy5

Diseases6

Chemicals and Drugs24

Analytical, Diagnostic and Therapeutic Techniques and Equipment5

Phenomena and Processes8

Information Science3

Deficiency9

Mutations6

HEXA8

Chromosome2

HEXB1

Subunit8

Enzyme5

Protein8

Recessive2

Isoenzymes1

Differentially1

Polypeptide chain2

Quantitative polymera1

Substrates3

Allele2

Cleave1

Amino1

Serum2

Mast cells3

Proteins3

Substrate3

Variants1

Alpha5

Light chains3

Variant1

Single-gene3

Amyloid beta1

Residues3

Severe1

Hydrolyzes1

Annotation1

Reverse transcri1

Eukaryotic1

Dimer1

Human5

Target gene3

Galactosidase3

Additional gene1

Structural1

Expression5

Disease2

Transcription2

Disorders1