Article
The mouse gene encoding the GM2 activator protein (Gm2a): cDNA sequence, expression, and chromosome mapping.
Genomics - 1 Dec 1994
Yamanaka S, Johnson O N, Lyu M S, Kozak C A, Proia R L
Abstract excerpt
The GM2 activator protein forms a substrate-complex with GM2 ganglioside, which enables degradation of the ganglioside by beta-hexosaminidase A. Mutations in the human GM2 activator protein gene (GM2A) result in the GM2 gangliosidosis AB variant, a severe neurological disease. We have isolated and sequenced a mouse GM2 activator protein (Gm2a) cDNA with complete protein coding and 3' untranslated regions....
Topics
- Animals
- Chromosome Mapping
- Chromosomes, Human, Pair 5
- Cloning, Molecular
- DNA, Complementary
- Female
- G(M2) Activator Protein
- G(M2) Ganglioside
- Gene Expression
- Humans
- Kidney