Primary Identifier | MGI:106040 | Organism | mouse, laboratory |
Chromosome | 5 | NCBI Gene Number | 13121 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable heme binding activity and sterol 14-demethylase activity. Involved in negative regulation of amyloid-beta clearance; negative regulation of protein catabolic process; and negative regulation of protein secretion. Predicted to be located in acrosomal vesicle. Is expressed in several structures, including early conceptus; genitourinary system; integumental system; jaw; and nervous system. Orthologous to human CYP51A1 (cytochrome P450 family 51 subfamily A member 1). PHENOTYPE: Mice homozygous for a knock-out allele exhibit skeletal and craniofacial abnormalities and die at late midgestation due to heart failure resulting from cardiac hypoplasia, ventricle septum, epicardial and vasculogenesis defects. [provided by MGI curators] |