XB-GENEPAGE-999130
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gm2a
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GM2 ganglioside activator
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(
Nomenclature history )
AI Protein Function
:
gm2a encodes a lysosomal GM2 activator protein that functions as a lipid‑transfer co‑factor facilitating hydrolysis of GM2 ganglioside; it is a soluble lysosomal protein that associates with the inner ...[+]
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Diseases:
Disease Ontology:
GM2 gangliosidosis, AB variant
MIM:
GM2-GANGLIOSIDOSIS, AB VARIANT
External Links:
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