Primary Identifier | MGI:1330812 | Organism | mouse, laboratory |
Chromosome | 11 | NCBI Gene Number | 11430 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable several functions, including PDZ domain binding activity; anion binding activity; and palmitoyl-CoA oxidase activity. Involved in fatty acid oxidation. Acts upstream of or within spermatogenesis. Located in peroxisomal membrane. Is expressed in several structures, including alimentary system; central nervous system; genitourinary system; integumental system; and sensory organ. Used to study peroxisomal acyl-CoA oxidase deficiency. Human ortholog(s) of this gene implicated in Mitchell syndrome and peroxisomal acyl-CoA oxidase deficiency. Orthologous to human ACOX1 (acyl-CoA oxidase 1). PHENOTYPE: Mice homozygous for a targeted mutation that inactivates the gene show growth retardation, infertility, excess very long chain fatty acids in the blood, and progressive liver disease, including hepatomegaly, and hepatic adenomas and carcinomas. [provided by MGI curators] |