Skip to main content

Search from vocabulary

Content language

Concept information

Preferred term

Hexosaminidase A  

Type

  • Topical Descriptor

Entry terms

  • beta N Acetylhexosaminidase A
  • beta-N-Acetylhexosaminidase A
  • Hex A

Note

  • for deficiency consider: SANDHOFF DISEASE or TAY-SACHS DISEASE

Scope note

  • 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.

History note

  • 2008(1987); for HEXOSAMINIDASE A use BETA-N-ACETYLHEXOSAMINIDASE 1987-2007

In other languages

URI

http://www.yso.fi/onto/mesh/D054818

Download this concept:

RDF/XML TURTLE JSON-LD Created 7/9/07, last modified 7/21/09