Primary Identifier | MGI:1921409 | Organism | mouse, laboratory |
Chromosome | 2 | NCBI Gene Number | 74159 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable fatty-acyl-CoA binding activity. Predicted to be involved in fatty acid metabolic process and pexophagy. Predicted to be located in nucleoplasm. Predicted to be active in peroxisome. Is expressed in several structures, including nervous system and sensory organ. Used to study peroxisomal disease. Human ortholog(s) of this gene implicated in retinal dystrophy with leukodystrophy. Orthologous to human ACBD5 (acyl-CoA binding domain containing 5). PHENOTYPE: Mice homozygous for a null allele exhibit alternations in cellular lipid homeostasis in the cerebellum and liver with increased very long-chain fatty acid levels, progressive cerebellar degeneration, peroxisome abnormalities, ataxia, and develop a peroxisome disorder. [provided by MGI curators] |