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Concept information

... > Enzymes and Coenzymes > Enzymes > Hydrolases > Glycoside Hydrolases > Hexosaminidases > beta-N-Acetylhexosaminidases > Hexosaminidase A

Terme préférentiel

Hexosaminidase A  

Type

  • mesh:Descriptor

Définition

  • 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.

Concept générique

Concepts spécifiques

Concepts associés

Synonyme(s)

  • beta-N-Acetylhexosaminidase A
  • Hex A

Qualificatif(s) autorisé(s)

Traductions

  • Hexosaminidase A

    français

  • beta-N-Acetylhexosaminidase A
  • bêta-N-Acétylhexosaminidase A
  • Hex A
  • Hex-A

URI

http://data.loterre.fr/ark:/67375/JVR-L9C40NX3-5

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RDF/XML TURTLE JSON-LD Date de création 09/07/2007, dernière modification le 21/07/2009