Reactome | bHEXA,bHEXB hydrolyze GM2A:GA2 to GM2A:LacCer

bHEXA,bHEXB hydrolyze GM2A:GA2 to GM2A:LacCer

Stable Identifier

R-HSA-9840833

Type

Reaction [transition]

Species

Homo sapiens

Compartment

lysosomal lumen

ReviewStatus

5/5

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bHEXA,bHEXB hydrolyze GM2A:GA2 to GM2A:LacCer

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Ganglioside GA2 (asialo-GM2, ganglio-N-triaosylceramide), bound to GM2A, gets cleaved by the beta-hexosaminidase complexes A and B. 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).

Literature References

PubMed ID	Title	Journal	Year
29802621	Emerging concepts of ganglioside metabolism Sandhoff, R, Sandhoff, K	FEBS Lett	2018
5135907	Enzyme alterations and lipid storage in three variants of Tay-Sachs disease Jatzkewitz, H, Harzer, K, Wässle, W, Sandhoff, K	J Neurochem	1971
29747811	Ganglioside Metabolism in Health and Disease Schulze, H, Sandhoff, R, Sandhoff, K	Prog Mol Biol Transl Sci	2018