| Primary Identifier | MGI:1353611 | Organism | mouse, laboratory |
| Chromosome | 9 | NCBI Gene Number | 235293 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable C-5 sterol desaturase activity and delta7-sterol 5(6)-desaturase activity. Predicted to be involved in cholesterol biosynthetic process via lathosterol and negative regulation of ferroptosis. Predicted to be active in endoplasmic reticulum membrane. Is expressed in central nervous system; ganglia; gut; and liver lobe. Orthologous to human SC5D (sterol-C5-desaturase). PHENOTYPE: Homozygous null mice died perinatally with increased lathosterol and decreased cholesterol levels. Additionaly, mutant mice presented with bone malformations of the limbs and skull. [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
