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 7.1.0) Predicted to enable C-5 sterol desaturase activity. Predicted to be involved in cholesterol biosynthetic process via lathosterol. Predicted to act upstream of or within sterol biosynthetic process. Predicted to be located in endoplasmic reticulum. Predicted to be active in 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] |