Primary Identifier | MGI:1915240 | Organism | mouse, laboratory |
Chromosome | 17 | NCBI Gene Number | 55951 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables pyruvate transmembrane transporter activity. Involved in acetyl-CoA biosynthetic process from pyruvate. Acts upstream of or within cellular response to leukemia inhibitory factor and mitochondrial pyruvate transmembrane transport. Located in mitochondrion. Is active in mitochondrial inner membrane. Is expressed in several structures, including adrenal gland; hemolymphoid system; nervous system; olfactory epithelium; and retina. Human ortholog(s) of this gene implicated in mitochondrial pyruvate carrier deficiency. Orthologous to human MPC1 (mitochondrial pyruvate carrier 1). PHENOTYPE: Mice homozygous for a conditional allele activated in the liver exhibit altered gluconeogenesis and whole body glucose homeostasis. Mice homozygous for a conditional allele activated in the retina exhibit retinal degeneration with altered metabolism. [provided by MGI curators] |