GM2A wt Allele

Preferred Label : GM2A wt Allele;

NCIt synonyms : GM2-AP; GM2 Activator Gene; Ganglioside GM2 Activator wt Allele; GM2 Ganglioside Activator Protein Gene; GM2AP; GM2-Activator Protein Gene; GM2 Ganglioside Activator Gene; SAP-3;

NCIt definition : Human GM2A wild-type allele is located in the vicinity of 5q33.1 and is approximately 58 kb in length. This allele, which encodes ganglioside GM2 activator protein, plays a role in intermembrane cholesterol transfer and in the metabolism of both gangliosides and sphingolipids. Mutation of the gene is associated with GM2-gangliosidosis AB.;

GenBank Accession Number : NM_000405;

Details

Origin ID

C201693;

OMIM relation
- Gm2 activator [OMIM gene]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 5q33.1 [NCIt concept]
gene_is_element_in_pathway
- Lysosome Assembly Pathway [NCIt concept]
- Sphingolipid Metabolism Pathway [NCIt concept]
gene_plays_role_in_process
- Cholesterol Homeostasis [NCIt concept]
- Ligand Binding [NCIt concept]
- Lipid Metabolic Process [NCIt concept]
- Lipid Transport [NCIt concept]
- Transport Process [NCIt concept]

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