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MS
unreviewed

beta-Hexosaminidase A (HEXA) + GM2 activator

1 reactions · 1 pathways

Clinical / pharmacological. Tay-Sachs disease

What it does, reaction by reaction

1 reactions

Sphingolipid Degradation (Lysosomal) Lipid Metabolism · Lysosome

step 2 Irreversible/directional

GM2 ganglioside -> GM3 ganglioside + N-acetylgalactosamine

Converts GM2 ganglioside into GM3 ganglioside N-acetylgalactosamine

Notes

HEXA deficiency causes Tay-Sachs disease (cherry-red macula, no hepatosplenomegaly); HEXA+HEXB deficiency causes Sandhoff disease.

Showing all 1 reactions.

What accelerates and inhibits it

Regulation is pathway-specific, so each context is listed separately

0 entries

No regulation recorded for this enzyme in the source documents.

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