| Primary Identifier | MGI:1914719 | Organism | mouse, laboratory |
| Chromosome | 9 | NCBI Gene Number | 67469 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables lipase activator activity. Involved in negative regulation of sequestering of triglyceride and positive regulation of triglyceride catabolic process. Located in cytosol and lipid droplet. Is expressed in central nervous system; dorsal root ganglion; heart; retina; and skin. Used to study Chanarin-Dorfman syndrome. Human ortholog(s) of this gene implicated in Chanarin-Dorfman syndrome; autosomal recessive congenital ichthyosis 1; and colon adenocarcinoma. Orthologous to human ABHD5 (abhydrolase domain containing 5, lysophosphatidic acid acyltransferase). PHENOTYPE: Mice homozygous for a knock-out allele exhibit growth retardation, impaired triacylglycerol catabolism, hepatic steatosis, and lethal skin barrier defect. [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
