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 7.1.0) Acts upstream of or within several processes, including chylomicron remnant clearance; endoplasmic reticulum to Golgi vesicle-mediated transport; 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] |