| Primary Identifier | MGI:1923733 | Organism | mouse, laboratory |
| Chromosome | 17 | NCBI Gene Number | 76483 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Acts upstream of or within several processes, including chylomicron remnant clearance; positive regulation of lipoprotein lipase activity; and regulation of lipid metabolic process. Located in endoplasmic reticulum membrane. Is expressed in several structures, including 1st branchial arch mandibular component; adipose tissue; central nervous system; liver; and vertebral cartilage condensation. Human ortholog(s) of this gene implicated in familial lipase maturation factor 1 deficiency. Orthologous to human LMF1 (lipase maturation factor 1). PHENOTYPE: Mutations in this gene result in neonatal death following progressive cyanosis, combined lipase deficiency, and hypertriglyceridemia. [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
