THE MOUSE GENE ENCODING THE G(M2) ACTIVATOR PROTEIN (GM2A) - CDNA SEQUENCE, EXPRESSION, AND CHROMOSOME MAPPING

The G(M2) activator protein forms a substrate-complex with G(M2) gangl ioside, which enables degradation of the ganglioside by beta-hexosamin idase A. Mutations in the human G(M2) activator protein gene (GM2A) re sult in the G(M2) gangliosidosis AB variant, a severe neurological dis ease. We have isolated and sequenced a mouse G(M2) activator protein ( Gm2a) cDNA with complete protein coding and 3' untranslated regions. E xpression of the Gm2a transcript (similar to 2.3 kb) was apparent in a ll tissues examined and was most abundant in kidney and testis. The Gm 2a gene was mapped to a region on mouse chromosome (Chr) 11 that is ho mologous with a segment of human chromosome 5 containing the orthologo us human gene. In addition, a Gm2a-related sequence (Gm2a-rs1) was map ped to mouse Chr 5. (C) 1994 Academic Press, Inc.