Primary Identifier | MGI:102667 | Organism | mouse, laboratory |
Chromosome | 3 | NCBI Gene Number | 18857 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable cholesterol binding activity and fatty acid binding activity. Acts upstream of or within membrane organization. Predicted to be located in cytoplasm and myelin sheath. Predicted to be active in cytosol and nucleus. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease type 1G. Orthologous to human PMP2 (peripheral myelin protein 2). PHENOTYPE: Mice homozygous for a knock-out allele exhibit a temporary reduction in motor nerve conduction velocity and transitory alterations in the lipid profile of peripheral myelin but no major defects in general PNS myelin structure. [provided by MGI curators] |