LMPD Database

LMP000886

Record overview

LMPD IDLMP000886
Gene ID2760
SpeciesHomo sapiens (Human)
Gene NameGM2 ganglioside activator
Gene SymbolGM2A
SynonymsGM2-AP; SAP-3
Chromosome5
Map Location5q33.1
SummaryThis gene encodes a small glycolipid transport protein which acts as a substrate specific co-factor for the lysosomal enzyme beta-hexosaminidase A. Beta-hexosaminidase A, together with GM2 ganglioside activator, catalyzes the degradation of the ganglioside GM2, and other molecules containing terminal N-acetyl hexosamines. Mutations in this gene result in GM2-gangliosidosis type AB or the AB variant of Tay-Sachs disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2009]
OrthologsView orthologs and multiple alignments for GM2A

Proteins

ganglioside GM2 activator isoform 1 precursor
Refseq ID:NP_000396
Protein GI:39995109
UniProt ID:P17900
mRNA ID:NM_000405
Length:193
RefSeq Status:REVIEWED
MQSLMQAPLLIALGLLLAAPAQAHLKKPSQLSSFSWDNCDEGKDPAVIRSLTLEPDPIIVPGNVTLSVMGSTSVPLSSPLKVDLVLEKEVAGLWIKIPCT
DYIGSCTFEHFCDVLDMLIPTGEPCPEPLRTYGLPCHCPFKEGTYSLPKSEFVVPDLELPSWLTTGNYRIESVLSSSGKRLGCIKIAASLKGI
 
ganglioside GM2 activator isoform 2 precursor
Refseq ID:NP_001161079
Protein GI:39995109
UniProt ID:P17900
mRNA ID:NM_001167607
Length:193
RefSeq Status:REVIEWED
MQSLMQAPLLIALGLLLAAPAQAHLKKPSQLSSFSWDNCDEGKDPAVIRSLTLEPDPIIVPGNVTLSVMGSTSVPLSSPLKVDLVLEKEVAGLWIKIPCT
DYIGSCTFEHFCDVLDMLIPTGEPCPEPLRTYGLPCHCPFKEGTYSLPKSEFVVPDLELPSWLTTGNYRIESVLSSSGKRLGCIKIAASLKGI
 
sig_peptide: 1..23
inference: COORDINATES: ab initio prediction:SignalP:4.0
calculated_mol_wt: 2335
peptide sequence: 
MQSLMQAPLLIALGLLLAAPAQA

sig_peptide: 1..23
inference: COORDINATES: ab initio prediction:SignalP:4.0
calculated_mol_wt: 2335
peptide sequence: 
MQSLMQAPLLIALGLLLAAPAQA