Hexosaminidase A

Hexosaminidas A

Engelsk definition

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.

Svenska synonymer

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Engelska synonymer

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