Primary Identifier | MGI:103562 | Organism | mouse, laboratory |
Chromosome | 1 | NCBI Gene Number | 15483 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.3.0) Enables 11-beta-hydroxysteroid dehydrogenase (NADP+) activity. Acts upstream of or within lung development. Predicted to be located in apical part of cell and nuclear membrane. Predicted to be active in endoplasmic reticulum membrane. Is expressed in several structures, including alimentary system; cardiovascular system; genitourinary system; nervous system; and sensory organ. Used to study cortisone reductase deficiency 2. Human ortholog(s) of this gene implicated in cortisone reductase deficiency (multiple); hypertension (multiple); obesity; and type 2 diabetes mellitus. Orthologous to human HSD11B1 (hydroxysteroid 11-beta dehydrogenase 1). PHENOTYPE: Mice homozygous for disruptions in this gene display improved glucose tolerance and lower circulating lipid levels. Mice homozygous for a different targeted allele exhibit decreased susceptibility to weight gain, adiposis or hyperinsulinemia induced by 11-DHC. [provided by MGI curators] |