| Primary Identifier | MGI:1099438 | Organism | mouse, laboratory |
| Chromosome | X | NCBI Gene Number | 18194 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor. Acts upstream of or within several processes, including cholesterol metabolic process; hair follicle development; and labyrinthine layer blood vessel development. Located in endoplasmic reticulum and lipid droplet. Is expressed in several structures, including extraembryonic component; eye; genitourinary system; integumental system; and nervous system. Used to study Bloch-Sulzberger syndrome and X-linked chondrodysplasia punctata 1. Human ortholog(s) of this gene implicated in CHILD syndrome and CK syndrome. Orthologous to human NSDHL (NAD(P) dependent steroid dehydrogenase-like). PHENOTYPE: Heterozygous females exhibit a striped coat or skin hyperkeratotic lesions leaving bare patches on the coat, with some mutations also resulting in skeletal dysplasia and eye defects. Hemizygous male and homozygous female mice die before birth, presumably due to placental defects. [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
