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 7.1.0) Predicted to enable 3-beta-hydroxy-delta5-steroid dehydrogenase activity and steroid delta-isomerase activity. Predicted to be involved in several processes, including hippocampus development; response to corticosterone; and steroid hormone biosynthetic process. 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] |