| Primary Identifier | MGI:1930252 | Organism | mouse, laboratory |
| Chromosome | 5 | NCBI Gene Number | 57357 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable 3-oxo-5alpha-steroid 4-dehydrogenase (NADP+) activity; polyprenal reductase activity; and polyprenol reductase activity. Involved in dolichol metabolic process; dolichol-linked oligosaccharide biosynthetic process; and polyprenol catabolic process. Predicted to be located in endoplasmic reticulum membrane. Predicted to be active in endoplasmic reticulum. Is expressed in several structures, including alimentary system; brain; early embryo; genitourinary system; and hemolymphoid system gland. Human ortholog(s) of this gene implicated in Kahrizi syndrome and congenital disorder of glycosylation Iq. Orthologous to human SRD5A3 (steroid 5 alpha-reductase 3). PHENOTYPE: Mice homozygous for a gene trapped allele exhibit embryonic lethality between E11.5 and E13.5 with open neural tubes, failure to turn, dilated hearts, and ventral body wall 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
