| Primary Identifier | MGI:1336155 | Organism | mouse, laboratory |
| Chromosome | 10 | NCBI Gene Number | 16987 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Predicted to enable lanosterol synthase activity. Predicted to be involved in cholesterol biosynthetic process and regulation of protein stability. Predicted to act upstream of or within lipid metabolic process. Predicted to be located in endoplasmic reticulum membrane. Predicted to be active in lipid droplet. Is expressed in several structures, including alimentary system; genitourinary system; integumental system; nervous system; and sensory organ. Used to study cataract. Human ortholog(s) of this gene implicated in alopecia-mental retardation syndrome 4; cataract; cataract 44; and hypotrichosis 14. Orthologous to human LSS (lanosterol synthase). PHENOTYPE: Mice homozygous for a null allele exhibit neonatal lethality and congenital cataracts associated with incomplete lens fiber cell differentiation and disrupted cholesterol biosynthesis pathways. [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
