| Primary Identifier | MGI:1329012 | Organism | mouse, laboratory |
| Chromosome | 11 | NCBI Gene Number | 20520 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables (R)-carnitine transmembrane transporter activity. Involved in several processes, including (R)-carnitine transmembrane transport; response to tumor necrosis factor; and response to type II interferon. Acts upstream of or within several processes, including adult heart development; carnitine metabolic process; and carnitine transport. Located in apical plasma membrane and brush border membrane. Is expressed in several structures, including liver; metanephros; nasal cavity mucosa; spleen; and testis. Used to study systemic primary carnitine deficiency disease. Human ortholog(s) of this gene implicated in Crohn's disease; cardiomyopathy; inherited metabolic disorder; and systemic primary carnitine deficiency disease. Orthologous to human SLC22A5 (solute carrier family 22 member 5). PHENOTYPE: Homozygotes for a spontaneous missense mutation exhibit systemic carnitine deficiency, cardiac hypertrophy, impaired Na-dependent carnitine transport, fatty liver, hypoglycemia, high postnatal mortality, and male infertility. [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
