KEGG   VARIANT: 2760v1
Entry
2760v1                      Variant                                
Name
GM2A deficiency
Gene
GM2A  ganglioside GM2 activator [KO:K12383]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 613109
Network
nt06014  Sphingolipid degradation
Reference
PMID:1915858
  Authors
Schroder M, Schnabel D, Suzuki K, Sandhoff K
  Title
A mutation in the gene of a glycolipid-binding protein (GM2 activator) that causes GM2-gangliosidosis variant AB.
  Journal
FEBS Lett 290:1-3 (1991)
DOI:10.1016/0014-5793(91)81211-p
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