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.
View Article and Find Full Text PDFSouthern blotting with a molecular clone of the amphotropic murine leukemia virus receptor identified restriction enzyme length polymorphisms among different taxonomic groups of mice. Analysis of the progeny of two interspecies genetic crosses was used to establish the genetic map location of the mouse gene encoding this receptor, Ram1, within the proximal region of chromosome 8.
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