Primary Identifier | MGI:2142763 | Organism | mouse, laboratory |
Chromosome | 8 | NCBI Gene Number | 102294 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable heme binding activity; iron ion binding activity; and long-chain fatty acid omega-hydroxylase activity. Predicted to be involved in fatty acid omega-oxidation. Predicted to be located in endoplasmic reticulum membrane. Is expressed in central nervous system; pancreas epithelium; and sensory organ. Used to study Bietti crystalline corneoretinal dystrophy. Human ortholog(s) of this gene implicated in Bietti crystalline corneoretinal dystrophy. Orthologous to human CYP4V2 (cytochrome P450 family 4 subfamily V member 2). PHENOTYPE: Homozygous null mice exhibit corneoretinal crystal accumulation and systemic dyslipidemia characteristic of Bietti Crystalline Dystrophy. [provided by MGI curators] |