Reaction: bHEXA,bHEXB hydrolyze GM2A:GA2 to GM2A:LacCer
- in pathway: Glycosphingolipid catabolism
Ganglioside GA2 (asialo-GM2, ganglio-N-triaosylceramide), bound to GM2A, gets cleaved by all three beta-hexosaminidase complexes. It is present at elevated levels in nerve cells in Sandhoff disease (Tay-Sachs disease variant O, MIM: 268800), a hexosaminidase beta subunit (HEXB) deficiency, which leads to low levels of both bHEX complexes bHEXA and bHEXB (Sandhoff et al., 1971; reviewed in Sandhoff et al., 2018; Sandhoff & Sandhoff, 2018).
Reaction - small molecule participants:
GalNAc [lysosomal lumen]
H2O [lysosomal lumen]
Reactome.org reaction link: R-HSA-9840833
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Reaction input - small molecules:
water
Reaction output - small molecules:
N-acetyl-D-galactosamine
Reactome.org link: R-HSA-9840833