GM2A

Entrez Summary: This 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].
UniProt Summary: The 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}.

Pfam Domains GO Terms

Compound Hit Most Correlated Genes in Chemogenomics Tissues where Essential in the Avana Dataset (DepMap 20Q1)

Global Fraction of Cell Lines Where Essential: 0/739

Tissue	Fraction Of Cell Lines Where Essential
1290807.0	0/1
909776.0	0/1
bile duct	0/28
blood	0/28
bone	0/26
breast	0/33
central nervous system	0/56
cervix	0/4
colorectal	0/17
esophagus	0/13
fibroblast	0/1
gastric	0/16
kidney	0/21
liver	0/20
lung	0/75
lymphocyte	0/16
ovary	0/26
pancreas	0/24
peripheral nervous system	0/16
plasma cell	0/15
prostate	0/1
skin	0/24
soft tissue	0/9
thyroid	0/2
upper aerodigestive	0/22
urinary tract	0/29
uterus	0/5

Expression Distribution

beta-N-acetylgalactosaminidase activity
sphingolipid activator protein activity
ganglioside catabolic process
phospholipase activator activity
oligosaccharide catabolic process
glycosphingolipid catabolic process
glycolipid catabolic process
ceramide catabolic process
ganglioside metabolic process
lipid storage
lipid transporter activity
sphingolipid catabolic process
membrane lipid catabolic process
oligosaccharide metabolic process
neuromuscular process controlling balance
cytoplasmic side of plasma membrane
glycosphingolipid metabolic process
ceramide metabolic process
azurophil granule lumen
lysosomal lumen
neuromuscular process
glycolipid metabolic process
liposaccharide metabolic process
carbohydrate catabolic process
sphingolipid metabolic process
maintenance of location
carbohydrate derivative catabolic process
cellular lipid catabolic process
basolateral plasma membrane
membrane lipid metabolic process
learning or memory
lipid transport
cognition
lipid catabolic process
apical plasma membrane
lipid localization
carbohydrate metabolic process
neutrophil degranulation
neutrophil activation involved in immune response
neutrophil mediated immunity