| 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 8.0.0) Enables cholesterol binding activity. Acts upstream of or within glucocorticoid metabolic process and regulation of steroid biosynthetic process. Located in mitochondrion. Is expressed in several structures, including adrenal gland; extraembryonic component; reproductive system; and urogenital ridge. 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] |
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
