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Hexosaminidase A  

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Tipo

  • mesh:Descriptor

Definición

  • 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.

Concepto genérico

Etiquetas alternativas

  • beta-N-Acetylhexosaminidase A
  • Hex A

En otras lenguas

  • francés

  • 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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