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beta N-acetylhexosaminidase
Pathology:
- subunit HexA is deficient in Tay-Sachs disease & subunits HexA & HexB are deficient in Sandhoff disease.
Related
beta-N-acetylhexosaminidase in amniotic fluid
beta-N-acetylhexosaminidase in dried blood spot
beta-N-acetylhexosaminidase in fibroblasts
beta-N-acetylhexosaminidase in leukocytes
beta-N-acetylhexosaminidase in platelets
beta-N-acetylhexosaminidase in serum
beta-N-acetylhexosaminidase in tissue
beta-N-acetylhexosaminidase measurement
bifunctional protein NCOAT; meningioma-expressed antigen 5; nuclear cytoplasmic O-GlcNAcase & acetyltransferase; includes: protein O-GlcNAcase; glycoside hydrolase O-GlcNAcase; hexosaminidase C; N-acetyl-beta-D-glucosaminidase; N-acetyl-beta-glucosaminidase; O-GlcNAcase; OGA; includes: histone acetyltransferase; HAT (MGEA5, HEXC, KIAA0679, MEA5)
General
hexosaminidase
multisubunit protein
Properties
MOTIF: active site
SUBUNITS: beta N-acetyl hexosaminidase alpha chain
MOTIF: signal sequence {1-22}
cysteine residue {C58}
MODIFICATION: cysteine residue {C104}
cysteine residue {C104}
MODIFICATION: cysteine residue {C58}
N-glycosylation site {N115}
N-glycosylation site {N157}
cysteine residue {C277}
MODIFICATION: cysteine residue {C328}
N-glycosylation site {N295}
glutamate residue {E323}
cysteine residue {C328}
MODIFICATION: cysteine residue {C277}
cysteine residue {C505}
MODIFICATION: cysteine residue {C522}
cysteine residue {C522}
MODIFICATION: cysteine residue {C505}
beta N-acetyl hexosaminidase beta chain
MOTIF: signal sequence {1-42}
cysteine residue {C91}
MODIFICATION: cysteine residue {C137}
cysteine residue {C137}
MODIFICATION: cysteine residue {C91}
N-glycosylation site {N142}
N-glycosylation site {N190}
cysteine residue {C309}
MODIFICATION: cysteine residue {C360}
N-glycosylation site {N327}
glutamate residue {E355}
cysteine residue {C360}
MODIFICATION: cysteine residue {C309}
cysteine residue {C534}
MODIFICATION: cysteine residue {C551}
cysteine residue {C551}
MODIFICATION: cysteine residue {C534}
References
Textbook of Biochemistry with Clinical Correlations,
3rd ed., TM Devlin (ed), Wiley-Liss, NY 1992 pg 459
Components
beta N-acetyl hexosaminidase alpha chain (hexosaminidase-A, HEXA)
beta N-acetyl hexosaminidase beta chain (hexosaminidase-B, HEXB)