| Primary Identifier | MGI:88594 | Organism | mouse, laboratory |
| Chromosome | 1 | NCBI Gene Number | 104086 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Predicted to enable Hsp70 protein binding activity; heme binding activity; and monooxygenase activity. Predicted to be involved in bile acid biosynthetic process; calcitriol biosynthetic process from calciol; and cholesterol catabolic process. Predicted to act upstream of or within steroid biosynthetic process. Located in mitochondrial inner membrane. Is expressed in several structures, including central nervous system; liver; male reproductive gland or organ; metanephros; and retina. Human ortholog(s) of this gene implicated in cerebrotendinous xanthomatosis. Orthologous to human CYP27A1 (cytochrome P450 family 27 subfamily A member 1). PHENOTYPE: Homozygous null allele show hepato- and adrenomegaly, reduced bile acid synthesis, increased cholesterol 7alpha-hydroxylase activity and 7alpha-hydroxycholesterol levels, slightly higher 25-hydroxyvitamin D levels, and altered hepatic fatty acid, triacylglycerol, and adrenal cholesterol homeostasis. [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
