MGP Database

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MGP001238

UniProt Annotations

Entry Information
Gene NameGM2 ganglioside activator
Protein Entry
UniProt ID
SpeciesHuman
Comments
Comment typeDescription
DiseaseGM2-gangliosidosis AB (GM2GAB) [MIM:272750]: An autosomal recessive lysosomal storage disease marked by the accumulation of GM2 gangliosides in the neuronal cells. It is characterized by GM2 gangliosides accumulation in the presence of both normal hexosaminidase A and B. {ECO:0000269|PubMed:1915858, ECO:0000269|PubMed:8244332, ECO:0000269|PubMed:8900233}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionThe large binding pocket can accommodate several single chain phospholipids and fatty acids, GM2A also exhibits some calcium-independent phospholipase activity (By similarity). Binds gangliosides and stimulates ganglioside GM2 degradation. It stimulates only the breakdown of ganglioside GM2 and glycolipid GA2 by beta-hexosaminidase A. It extracts single GM2 molecules from membranes and presents them in soluble form to beta- hexosaminidase A for cleavage of N-acetyl-D-galactosamine and conversion to GM3. {ECO:0000250}.
PtmThe serines in positions 32 and 33 are absent in 80% of the sequenced protein.
Sequence CautionSequence=CAA43408.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=CAA43994.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};
Subcellular LocationLysosome.
Web ResourceName=GM2Adb; Note=GM2A mutation database; URL="http://www.hexdb.mcgill.ca/?Topic=GM2Adb";
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