N-acetyl-β-D-hexosaminidase, N-acetyl-β-hexosaminidase, N-acetyl hexosaminidase, β-hexosaminidase, β-acetylhexosaminidinase, β- ... GeneReviews/NCBI/NIH/UW entry on hexosaminidase A deficiency, Tay-Sachs disease hexosaminidase A at the U.S. National Library ... NCOAT is also known as hexosaminidase C and has distinct substrate specificities compared to lysosomal hexosaminidase A. A ... The GM2 activator proteinM2transports GM2 gangliosides and presents the lipids to hexosaminidase, so a functional hexosaminidase ...

Total hexosaminidase enzyme activity is decreased in individuals with Tay-Sachs as is the percentage of hexosaminidase A. After ... Hexosaminidase A is a vital hydrolytic enzyme, found in the lysosomes, that breaks down sphingolipids. When hexosaminidase A is ... which codes a subunit of the hexosaminidase enzyme known as hexosaminidase A. It is inherited in an autosomal recessive manner ... When a patient has at least one HEXA copy that still enables some level of hexosaminidase A activity, a later onset disease ...

Beta-hexosaminidase is a vital hydrolytic enzyme, found in the lysosomes, that breaks down lipids. When beta-hexosaminidase is ... This protein is a cofactor that is required for the normal function of beta-hexosaminidase A. The disease is usually fatal by ... Detection of heterozygotes and homozygotes by serum hexaminidase assay". New England Journal of Medicine. 283 (1): 15-20. doi: ... GeneReview/NIH/UW entry on Hexosaminidase A Deficiency (CS1 errors: periodical ignored, CS1 German-language sources (de), ...

There are 3 forms of beta-hexosaminidase: hexosaminidase A is a trimer, with one alpha, one beta-A and one beta-B chain; ... hexosaminidase B is a tetramer of two beta-A and two beta-B chains; and hexosaminidase S is a homodimer of alpha chains. The ... Glycoside hydrolase family 20 CAZY GH_20 comprises enzymes with several known activities; beta-hexosaminidase (EC 3.2.1.52); ... In the brain and other tissues, beta-hexosaminidase A degrades GM2 gangliosides; specifically, the enzyme hydrolyses terminal ...

Kaback, Michael M. "Hexosaminidase A Deficiency". GeneReviews. Retrieved 2007-05-11. Machácková, Eva (2003). "Disease-causing ... Enzyme assay techniques detect individuals with lower levels of hexosaminidase A. Development of a serum enzyme assay test made ... 1993). "A second mutation associated with apparent beta-hexosaminidase A pseudodeficiency: identification and frequency ...

del Rio LA, Berkeley RC (May 1976). "Exo-β-N-acetylmuramidase - a novel hexosaminidase. Production by Bacillus subtilis B, ...

... beta-hexosaminidase. AB variant is caused by a failure in the gene that makes an enzyme cofactor for beta-hexosaminidase, ... except that there is deficiency of both hexosaminidase A and hexosaminidase B. Infants with this disorder typically appear ... This protein is required for the normal function of beta-hexosaminidase A, a critical enzyme in the nervous system that breaks ... If mutations in both alleles at this locus disrupt the activity of the GM2 activator, beta-hexosaminidase A cannot perform its ...

OGA is a member of the family of hexosaminidases. However, unlike lysosomal hexosaminidases, OGA activity is the highest at ... For both types of inhibitors, OGA can be selected apart from the generic lysosomal hexosaminidases by elongating the C2 ... Alonso J, Schimpl M, van Aalten DM (December 2014). "O-GlcNAcase: promiscuous hexosaminidase or key regulator of O-GlcNAc ...

Hexosaminidase A (alpha polypeptide), also known as HEXA, is an enzyme that in humans is encoded by the HEXA gene, located on ... Hexosaminidase A at the U.S. National Library of Medicine Medical Subject Headings (MeSH) EC 3.2.1.52 National Tay-Sach's ... Hexosaminidase A is a heterodimer composed of an alpha subunit (this protein) and a beta subunit. The alpha subunit polypeptide ... Hexosaminidase A and the cofactor GM2 activator proteinM2catalyze the degradation of the GM2 gangliosides and other molecules ...

As a member of family 20 β-hexosaminidases, it cleaves terminal monosaccharide residues from the non-reducing end of the ... Dispersin B is a β-hexosaminidase that specifically hydrolyzes β-1,6-glycosidic linkages of acetylglucosamine polymers found in ... Williams SJ, Mark BL, Vocadlo DJ, James MN, Withers SG (2002). "Aspartate 313 in the Streptomyces plicatus hexosaminidase plays ... "The X-ray crystal structure of human beta-hexosaminidase B provides new insights into Sandhoff disease". J Mol Biol. 328 (3): ...

The gene provides instructions for making a protein crucial to the enzymes beta-hexosaminidase A and beta-hexosaminidase B, ... hexosaminidase activity was almost completely absent. The disease causing catabolic enzyme deficiency of hexosaminidases was ... In particular, beta-hexosaminidase A breaks down a fatty compound called GM2 gangliosideM2 Mutations in the HEXB gene disrupt ... Kytzia HJ, Hinrichs U, Maire I, Suzuki K, Sandhoff K (1983). "Variant of GM2-gangliosidosis with hexosaminidase A having a ...

Notably, deficiency of hexosaminidases results in clinically significant Tay-Sachs and Sandhoff diseases, which also implicates ... Hexosaminidases (Hex) are important glycoside hydrolases for the generation of plant-specific paucimannosidic proteins across ... "N-acetyl-β-D-hexosaminidases mediate the generation of paucimannosidic proteins via a putative noncanonical truncation pathway ... "Physiological Substrates for Human Lysosomal β-Hexosaminidase S". Journal of Biological Chemistry. 277 (4): 2562-2572. doi: ...

"Detachment of Actinobacillus actinomycetemcomitans biofilm cells by an endogenous beta-hexosaminidase activity". Journal of ...

He also proved that Tay-Sachs disease patients could be diagnosed by enzyme assay of hexosaminidase A. Further development of ... Detection of heterozygotes and homozygotes by serum hexaminidase assay". New England Journal of Medicine. 283 (1): 15-20. doi: ... enzyme assay testing demonstrated that levels of both hexosaminidases A and B could be measured in patients and carriers, ...

March 2011). "Pyrimethamine increases β-hexosaminidase A activity in patients with Late Onset Tay Sachs". Molecular Genetics ... researchers discovered that pyrimethamine can increase β-hexosaminidase activity, thus potentially slowing down the progression ...

Beta-hexosaminidase subunit beta is an enzyme that in humans is encoded by the HEXB gene. Hexosaminidase B is the beta subunit ... Beta-hexosaminidase is composed of two subunits, alpha and beta, which are encoded by separate genes. Both beta-hexosaminidase ... Intracerebroventricular administration of the modified β-hexosaminidase B to Sandhoff mode mice restored the β-hexosaminidase ... "Entrez Gene: HEXB hexosaminidase B (beta polypeptide)". Bateman KS, Cherney MM, Mahuran DJ, Tropak M, James MN (March 2011). " ...

1993). "A second mutation associated with apparent beta-hexosaminidase A pseudodeficiency: identification and frequency ...

This protein binds molecules of ganglioside GM2, extracts them from membranes, and presents them to beta-hexosaminidase A for ... Gangliosidosis Sandhoff disease Tay-Sachs disease Hexosaminidase GM1 GRCh38: Ensembl release 89: ENSG00000196743 - Ensembl, May ... β-hexosaminidase A, together with GM2 gangliosideM2activator, catalyzes the degradation of the ganglioside GM2, and other ... GM2 gangliosideM2and hexosaminidase A". Biochim. Biophys. Acta. 1340 (1): 45-52. doi:10.1016/S0167-4838(97)00027-7. PMID 9217013 ...

Lysosomal exocytosis is typically evaluated by estimation of released lysosomal enzymes such as beta hexosaminidase. An ...

Beta-hexosaminidases are composed of either a HexA/HexB heterodimer or a HexB homodimer, and can hydrolyse diverse substrates, ... Mark BL, Mahuran DJ, Cherney MM, Zhao D, Knapp S, James MN (April 2003). "Crystal structure of human beta-hexosaminidase B: ... In molecular biology, the CHB HEX N-terminal domain represents the N-terminal domain in chitobiases and beta-hexosaminidases. ...

Lemansky P, Gieselmann V, Hasilik A, von Figura K (August 1984). "Cathepsin D and beta-hexosaminidase synthesized in the ...

On top of that, M. pneumoniae induces the activation of mast cells by releasing serotonin and hexosaminidase. By producing ...

... hexosaminidase, and a human chitinase, chitotriosidase. This latter enzyme has proved to be very useful for monitoring ...

"Crystallographic Structure of Human β-Hexosaminidase A: Interpretation of Tay-Sachs Mutations and Loss of GM2 GangliosideM2 ...

Ohno, Kousaku & Suzuki, Kunihiko (1988-12-05). "Multiple Abnormal beta-Hexosaminidase alpha-Chain mRNAs in a Compound- ...

The HEXA gene makes part of an enzyme called beta-hexosaminidase A, which plays a critical role in the nervous system. This ... Mutations in the HEXA gene disrupt the activity of beta-hexosaminidase A, preventing the breakdown of the fatty substances. As ...

EC 3.2.1.52 refers to β-n-acetyl-hexosaminidase, a 4-enzyme family that has the ability to hydrolyze terminal non-reducing n- ... EC 3.2.1.52 refer to β-n-acetyl-hexosaminidase, a complex of 4 enzymes including n-acetyl-β-d-glucosaminidase. The various ...

In 2008, researchers in Texas identified the hexosaminidase A deficiency known in humans as Tay-Sachs disease in four Jacob ...

... in which patients lack the enzyme hexosaminidase. One example of enzyme deficiency is the most common type of phenylketonuria. ...

... a hexosaminidase) from a soil organism. Treating the polysaccharide with this enzyme abrogated its serological reactivity. ...