Primary Identifier | MGI:102760 | Organism | mouse, laboratory |
Chromosome | 8 | NCBI Gene Number | 20845 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Predicted to enable cholesterol binding activity. Acts upstream of or within cellular lipid metabolic process; glucocorticoid metabolic process; and regulation of steroid biosynthetic process. Located in mitochondrion. Is expressed in several structures, including adrenal gland; extraembryonic component; and reproductive system. Used to study congenital adrenal hyperplasia. Human ortholog(s) of this gene implicated in congenital adrenal hyperplasia. Orthologous to human STAR (steroidogenic acute regulatory protein). PHENOTYPE: Homozygous null mice fail to thrive and die during the postnatal period due to adrenocortical insufficiency. Mice exhibit male pseudohermaprhoditism and show a progressive accumulation of lipids within steroidogenic cells of the adrenal glands and gonads. [provided by MGI curators] |