| Primary Identifier | MGI:107822 | Organism | mouse, laboratory |
| Chromosome | X | NCBI Gene Number | 13595 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables C-8 sterol isomerase activity. Acts upstream of or within hemopoiesis and sterol biosynthetic process. Predicted to be located in endoplasmic reticulum membrane and nuclear membrane. Predicted to be active in endoplasmic reticulum. Is expressed in embryo; liver lobe; mandible; maxilla; and orbito-sphenoid. Used to study X-linked chondrodysplasia punctata 1. Human ortholog(s) of this gene implicated in MEND syndrome; X-linked chondrodysplasia punctata 2; and chondrodysplasia punctata. Orthologous to human EBP (EBP cholestenol delta-isomerase). PHENOTYPE: A radiation induced mutation is prenatal lethal in males and causes both pre- and postnatal loss in heterozygous females. Moderately affected adult females show slight coat striping while severely affected females are often smaller with skin scarring resulting in bald patches on the coat and tail. [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
