Primary Identifier | MGI:1330808 | Organism | mouse, laboratory |
Chromosome | 1 | NCBI Gene Number | 15490 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Enables 3-keto sterol reductase activity; 5alpha-androstane-3beta,17beta-diol dehydrogenase activity; and estradiol 17-beta-dehydrogenase [NAD(P)] activity. Involved in several processes, including androgen metabolic process; embryonic organ development; and estrogen biosynthetic process. Acts upstream of or within several processes, including cholesterol biosynthetic process; embryonic skeletal system development; and nervous system development. Located in endoplasmic reticulum membrane. Is expressed in several structures, including autopod; branchial arch; eye; nervous system; and spleen primordium. Orthologous to human HSD17B7 (hydroxysteroid 17-beta dehydrogenase 7). PHENOTYPE: Mice homozygous for a targeted allele exhibit embryonic lethality, abnormal brain development, abnormal branchial arches, pericardial effusion, and abnormal cardiovascular development. [provided by MGI curators] |