GM2A wt Allele

**Semantic type:** Gene or Genome

**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.

**Synonyms:** - GM2 Activator Gene - GM2 Ganglioside Activator Gene - GM2 Ganglioside Activator Protein Gene - GM2-AP - GM2-Activator Protein Gene - GM2AP - Ganglioside GM2 Activator wt Allele - SAP-3