LMPD Database

LMP000886

UniProt Annotations

Entry Information
Gene NameGM2 ganglioside activator
Protein EntryNONE_CAEEL
UniProt IDP17900
SpeciesHuman
Comments
Comment typeDescription
DiseaseGM2-gangliosidosis AB (GM2GAB) [MIM
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.
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= ; Sequence=CAA43994.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence= ;
Subcellular LocationLysosome.
Web ResourceName=GM2Adb; Note=GM2A mutation database; URL="http://www.hexdb.mcgill.ca/?Topic=GM2Adb";