| Primary Identifier | MGI:109598 | Organism | mouse, laboratory |
| Chromosome | 3 | NCBI Gene Number | 15497 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable 3-beta-hydroxy-delta5-steroid dehydrogenase (NAD+) activity and steroid delta-isomerase activity. Predicted to be involved in C21-steroid hormone biosynthetic process; androgen biosynthetic process; and negative regulation of iron ion transport. Predicted to be located in several cellular components, including intercellular bridge; mitochondrial envelope; and nucleolus. Predicted to be active in cytoplasm and intracellular membrane-bounded organelle. Is expressed in several structures, including alimentary system; brain; cardiovascular system; extraembryonic component; and genitourinary system. Human ortholog(s) of this gene implicated in hypertension and hypospadias. Orthologous to human HSD3B1 (hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1) and HSD3B2 (hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2). PHENOTYPE: Homozygous null mice exhibit Meibomian gland atrophy, reduced Meibomian gland cell proliferation, decreased testosterone levels in the Meibomian gland, and evaporative dry eye phenotype with compensatory increase in tear production. [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
