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ganglioside GM2 activator; GM2-AP; cerebroside sulfate activator protein; shingolipid activator protein 3; SAP-3; contains: ganglioside GM2 activator isoform short (GM2A)
Function:
- binds gangliosides & stimulates ganglioside GM2 degradation
- Stimulates only the breakdown of ganglioside GM2 & glycolipid GA2 by beta-hexosaminidase A
- extracts single GM2 molecules from membranes & presents them in soluble form to beta-hexosaminidase A for cleavage of N-acetyl-D-galactosamine & conversion to GM3
Structure:
- the Ser in positions 32 & 33 are absent in 80% of the sequenced protein
Compartment: lysosome
Pathology:
- defects in GM2A are the cause of Tay-sachs disease AB variant
General
glycoprotein
Properties
SIZE: entity length = 193 aa
MW = 21 kD
COMPARTMENT: lysosome
MOTIF: signal sequence {1-23}
cysteine residue {C39}
MODIFICATION: cysteine residue {C183}
N-glycosylation site {N63}
cysteine residue {C99}
MODIFICATION: cysteine residue {C106}
cysteine residue {C106}
MODIFICATION: cysteine residue {C99}
cysteine residue {C112}
MODIFICATION: cysteine residue {C138}
cysteine residue {C125}
MODIFICATION: cysteine residue {C136}
cysteine residue {C136}
MODIFICATION: cysteine residue {C125}
cysteine residue {C138}
MODIFICATION: cysteine residue {C112}
cysteine residue {C183}
MODIFICATION: cysteine residue {C39}
Database Correlations
OMIM 272750
UniProt P17900
Entrez Gene 2760
Kegg hsa:2760
References
- UniProt :accession P17900
- GM2Adb; Note: GM2A mutation database
http://www.hexdb.mcgill.ca/?Topic=GM2Adb
- GeneReviews
https://www.genecards.org/cgi-bin/carddisp.pl?gene=GM2A