title: The mouse gene encoding the GM2 activator protein (Gm2a): cDNA sequence, expression, and chromosome mapping.
abstract: 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. Expression of the Gm2a transcript (approximately 2.3 kb) was apparent in all tissues examined and was most abundant in kidney and testis. The Gm2a gene was mapped to a region on mouse chromosome (Chr) 11 that is homologous with a segment of human chromosome 5 containing the orthologous human gene. In addition, a Gm2a-related sequence (Gm2a-rs1) was mapped to mouse Chr 5.
authors.affiliation: Section on Biochemical Genetics, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, Maryland 20892.
authors.forename: S
authors.initials: S
authors.lastname: Yamanaka
authors.forename: O N
authors.initials: ON
authors.lastname: Johnson
authors.forename: M S
authors.initials: MS
authors.lastname: Lyu
authors.forename: C A
authors.initials: CA
authors.lastname: Kozak
authors.forename: R L
authors.initials: RL
authors.lastname: Proia
mesh_terms: D000818:Animals; D002874:Chromosome Mapping; D002895:Chromosomes, Human, Pair 5; D003001:Cloning, Molecular; D018076:DNA, Complementary / Q000235:genetics*; D005260:Female; D049289:G(M2) Activator Protein; D005678:G(M2) Ganglioside / Q000378:metabolism*; D015870:Gene Expression; D006801:Humans; D007668:Kidney / Q000378:metabolism; D008297:Male; D051379:Mice; D008969:Molecular Sequence Data; D009115:Muridae; D009154:Mutation; D011506:Proteins / Q000235:genetics* / Q000378:metabolism; D013045:Species Specificity; D013737:Testis / Q000378:metabolism; D014018:Tissue Distribution
chemical_list: D018076:DNA, Complementary; D049289:G(M2) Activator Protein; D011506:Proteins; D005678:G(M2) Ganglioside