"Hexosaminidase A" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
A mammalian beta-hexosaminidase isoform that is a heteromeric protein comprized of both hexosaminidase alpha and hexosaminidase beta subunits. Deficiency of hexosaminidase A due to mutations in the gene encoding the hexosaminidase alpha subunit is a case of TAY-SACHS DISEASE. Deficiency of hexosaminidase A and HEXOSAMINIDASE B due to mutations in the gene encoding the hexosaminidase beta subunit is a case of SANDHOFF DISEASE.
| Descriptor ID |
D054818
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| MeSH Number(s) |
D08.811.277.450.483.180.750
|
| Concept/Terms |
Hexosaminidase A- Hexosaminidase A
- Hex A
- beta-N-Acetylhexosaminidase A
- beta N Acetylhexosaminidase A
|
Below are MeSH descriptors whose meaning is more general than "Hexosaminidase A".
Below are MeSH descriptors whose meaning is more specific than "Hexosaminidase A".
This graph shows the total number of publications written about "Hexosaminidase A" by people in this website by year, and whether "Hexosaminidase A" was a major or minor topic of these publications.
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Below are the most recent publications written about "Hexosaminidase A" by people in Profiles.
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Preferential beta-hexosaminidase (Hex) A (alpha beta) formation in the absence of beta-Hex B (beta beta) due to heterozygous point mutations present in beta-Hex beta-chain alleles of a motor neuron disease patient. J Biol Chem. 1994 Feb 18; 269(7):4819-26.
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Molecular basis of an adult form of beta-hexosaminidase B deficiency with motor neuron disease. Biochem Biophys Res Commun. 1991 Nov 27; 181(1):108-15.
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Molecular heterogeneity in the infantile and juvenile forms of Sandhoff disease (O-variant GM2 gangliosidosis). J Biol Chem. 1986 Sep 25; 261(27):12680-5.
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Isolation of cDNA clones coding for the alpha-subunit of human beta-hexosaminidase. Extensive homology between the alpha- and beta-subunits and studies on Tay-Sachs disease. J Biol Chem. 1986 Jun 25; 261(18):8407-13.
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N-acetyl-beta-hexosaminidase beta locus defect and juvenile motor neuron disease: a case study. Ann Neurol. 1986 Jun; 19(6):568-72.
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Isolation of cDNA clones coding for the beta subunit of human beta-hexosaminidase. Proc Natl Acad Sci U S A. 1985 Feb; 82(4):1184-8.