Primary Identifier | MGI:107612 | Organism | mouse, laboratory |
Chromosome | 7 | NCBI Gene Number | 20167 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Acts upstream of or within gene expression; intracellular protein transmembrane transport; and regulation of glucose import. Located in several cellular components, including T-tubule; Z disc; and terminal cisterna. Is expressed in several structures, including alimentary system; central nervous system; genitourinary system; integumental system; and sensory organ. Human ortholog(s) of this gene implicated in hereditary spastic paraplegia 12. Orthologous to human RTN2 (reticulon 2). PHENOTYPE: Mice heterozygous and homozygous for an allele disrupting the skeletal isoform exhibit abollished or severely impaired glucose uptake in skeletal muscle. [provided by MGI curators] |