Primary Identifier | MGI:1346524 | Organism | mouse, laboratory |
Chromosome | 14 | NCBI Gene Number | 24053 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Acts upstream of or within gene expression. Located in sarcolemma. Part of sarcoglycan complex. Is expressed in tongue; urinary system; and vertebral axis musculature. Used to study autosomal recessive limb-girdle muscular dystrophy type 2C and limb-girdle muscular dystrophy. Human ortholog(s) of this gene implicated in autosomal recessive limb-girdle muscular dystrophy type 2C and type 2 diabetes mellitus. Orthologous to human SGCG (sarcoglycan gamma). PHENOTYPE: Mice homozygous for disruptions in this gene display abnormalities in muscles and heart similar to muscular dystrophy. [provided by MGI curators] |