Primary Identifier | MGI:103099 | Organism | mouse, laboratory |
Chromosome | 5 | NCBI Gene Number | 12861 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable enzyme regulator activity. Predicted to be involved in mitochondrial electron transport, cytochrome c to oxygen. Located in mitochondrion and myelin sheath. Is expressed in several structures, including alimentary system; cranium; genitourinary system; nervous system; and sensory organ. Used to study Charcot-Marie-Tooth disease recessive intermediate D. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease recessive intermediate D. Orthologous to human COX6A1 (cytochrome c oxidase subunit 6A1). PHENOTYPE: Homozygous null mice exhibit impaired coordination, thinned sciatic nerves, neurogenic muscular changes and delayed motor nerve conduction velocity. [provided by MGI curators] |