| Primary Identifier | MGI:2141879 | Organism | mouse, laboratory |
| Chromosome | 7 | NCBI Gene Number | 101502 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase activity. Involved in B cell chemotaxis. Predicted to be located in lipid droplet. Is expressed in several structures, including alimentary system; bladder; facial bone primordium; heart; and liver and biliary system. Human ortholog(s) of this gene implicated in congenital bile acid synthesis defect 1 and intrahepatic cholestasis. Orthologous to human HSD3B7 (hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7). PHENOTYPE: Mice homozygous for a null allele exhibit postnatal lethality, dwarfism, growth retardation, oily and scaly skin, and altered bile salt and lipid 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
