A hexosaminidase specific for non-reducing N-acetyl-D-hexosamine residues in N-acetyl-beta-D-hexosaminides. It acts on GLUCOSIDES; GALACTOSIDES; and several OLIGOSACCHARIDES. Two specific mammalian isoenzymes of beta-N-acetylhexoaminidase are referred to as HEXOSAMINIDASE A and HEXOSAMINIDASE B. Deficiency of the type A isoenzyme causes TAY-SACHS DISEASE, while deficiency of both A and B isozymes causes SANDHOFF DISEASE. The enzyme has also been used as a tumor marker to distinguish between malignant and benign disease.

Synonyms: beta Hexosaminidase, beta-N-Acetyl-D-hexosaminidase, beta N Acetyl D hexosaminidase, EC 3.2.1.52, beta-N-Acetyl-hexosaminidase, beta-N-Acetylhexosaminidases, beta N Acetylhexosaminidases, N-Acetyl-beta-D-hexosaminidase, beta-N-Acetyl-D-hexosaminide N-acetylhexosaminohydrolase, beta N Acetyl hexosaminidase, beta-N-Acetylhexosaminidase, beta N Acetylhexosaminidase, N Acetyl beta D hexosaminidase, beta-Hexosaminidase

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2008(1988) ,2008; see BETA-N-ACETYL-D-HEXOSAMINIDASE 1988-2007 ,do not confuse with ACETYLGLUCOSAMINIDASE; /defic: consider also TAY SACHS DISEASE and SANDHOFF DISEASE

identifier

D001619

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