| Primary Identifier | MGI:891978 | Organism | mouse, laboratory |
| Chromosome | 2 | NCBI Gene Number | 16922 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Enables catalytic activity. Acts upstream of or within fatty acid alpha-oxidation. Located in mitochondrion. Is expressed in several structures, including alimentary system; cardiovascular system; central nervous system; liver; and respiratory system. Used to study Refsum disease. Human ortholog(s) of this gene implicated in Refsum disease; Zellweger syndrome; orofacial cleft; and peroxisomal disease. Orthologous to human PHYH (phytanoyl-CoA 2-hydroxylase). PHENOTYPE: When fed a high phytol diet, mice homozygous for a null allele exhibit hepatic lipidosis and steatosis, ataxia, peripheral neuropathy and loss of spermatogonia. [provided by MGI curators] |
Features --> Cross References
Canonical gene --> CDSs in specific strains.
Canonical gene --> Exons in specific strains
Canonical gene --> Strain-specific IDs, biotypes, and locations
Canonical gene --> Transcripts in specific strains.
Features --> Overlapping features
