| Primary Identifier | MGI:96755 | Organism | mouse, laboratory |
| Chromosome | 8 | NCBI Gene Number | 16816 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables phosphatidylcholine-sterol O-acyltransferase activity and platelet-activating factor acetyltransferase activity. Involved in regulation of high-density lipoprotein particle assembly. Acts upstream of or within cholesterol metabolic process and lipoprotein biosynthetic process. Located in extracellular space. Is expressed in several structures, including alimentary system; central nervous system; eye; genitourinary system; and integumental system. Used to study Norum disease. Human ortholog(s) of this gene implicated in Norum disease and arteriosclerosis. Orthologous to human LCAT (lecithin-cholesterol acyltransferase). PHENOTYPE: Homozygotes display severe hypoalphalipoproteinemia, variable hypertriglyceridemia, and accumulation of heterogeneous pre-beta HDL, as well as an attenuated increase in apoB-containing lipoproteins in response to dietary cholesterol. [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
