Primary Identifier | MGI:1915268 | Organism | mouse, laboratory |
Chromosome | 13 | NCBI Gene Number | 68018 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables kinase activity. Involved in ER to Golgi ceramide transport. Acts upstream of or within several processes, including ceramide metabolic process; in utero embryonic development; and lipid homeostasis. Located in cytosol and mitochondrion. Is expressed in several structures, including alimentary system; eye; nervous system; respiratory system; and urinary system. Human ortholog(s) of this gene implicated in autosomal dominant intellectual developmental disorder 34. Orthologous to human CERT1 (ceramide transporter 1). PHENOTYPE: Homozygous mice display embryonic lethality during organogenesis with reduced embryo size, impaired heart function, abnormal heart morphology, abnormal mitochondrial morphology and physiology, abnormal endoplasmic reticulum morphology, and decreased cell proliferation. [provided by MGI curators] |