Primary Identifier | MGI:2179326 | Organism | mouse, laboratory |
Chromosome | 15 | NCBI Gene Number | 170719 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables oxidoreductase activity. Acts upstream of or within several processes, including adult walking behavior; negative regulation of cellular response to oxidative stress; and negative regulation of peptidyl-cysteine S-nitrosylation. Located in nucleolus. Is expressed in several structures, including central nervous system; genitourinary system; liver; lung; and spleen. Human ortholog(s) of this gene implicated in cerebellar hyplasia/atrophy, epilepsy, and global developmental delay. Orthologous to human OXR1 (oxidation resistance 1). PHENOTYPE: Homozygous mutation of this gene results in progressive cerebellar neurodegeneration and ataxia, increased apoptosis in the cerebellar granule cell layer, and premature death. [provided by MGI curators] |