GM2A Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | GM2A |
| Official Name | GM2 ganglioside activator [Source:HGNC Symbol;Acc:HGNC:4367] |
| Ensembl ID | ENSG00000196743 |
| Bio databases IDs | |
| Aliases | GM2 ganglioside activator, ganglioside GM2 activator, cerebroside sulfate activator protein, sphingolipid activator protein 3, GM2-activator protein |
| Synonyms | Cerebroside Sulfate Activator, Cerebroside sulphate Activator, ganglioside GM2 activator, GM2-AP, GM2 ganglioside activator protein, M2act, SAP-3 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human GM2A often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- lipid transporter
- beta-N-acetylgalactosaminidase
- ML
- ML domain
- beta-L-N-acetylhexosaminidase
- enzyme
- protein binding
- enzyme activator activity
- phospholipase activator
- sphingolipid activator protein
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- chronic obstructive pulmonary disease
- weight loss
- Alzheimer disease
- GM2 gangliosidosis AB
- hexosaminidase A deficiency
- psoriasis
- lymphoma
- lymphomagenesis
- productive infection by HIV-1
regulates
- ganglioside GM2
- oligosaccharide
- asialo GM2 ganglioside
- CD1
- lipid
- ganglioside GM1
- ganglioside
- glycosphingolipid
role in cell
- abnormal morphology
- accumulation in
- storage in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- intracellular membrane-bounded organelle
- azurophil granule lumen
- Extracellular Space
- perinuclear region
- lysosome
- cytosol
- cytoplasmic face of plasma membrane
- apical membrane
- basolateral membrane
- lysosomal compartment
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human GM2A gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- lipid transport
- maintenance of location in cell
- lipid storage
- glycosphingolipid catabolic process
- oligosaccharide catabolic process
- ganglioside catabolic process
- neuromuscular process controlling balance
- learning or memory
Cellular Component
Where in the cell the gene product is active
- extracellular vesicular exosome
- intracellular membrane-bounded organelle
- cytosol
- lysosomal lumen
- extracellular region
- basolateral plasma membrane
- apical plasma membrane
- azurophil granule lumen
- internal side of plasma membrane
Molecular Function
What the gene product does at the molecular level
- sphingolipid activator protein activity
- beta-N-acetylgalactosaminidase activity
- lipid transporter activity
- phospholipase activator activity