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.
See also reference (FX) in Slovak
Sandhoffova choroba Tay-Sachsova choroba
See also reference (FX) in English
Sandhoff Disease Tay-Sachs Disease
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(1) - ARTICLES
(2) - MeSH descriptor
subject heading
openseadragon
Number of the records: 1
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