Primary Identifier | MGI:1298205 | Organism | mouse, laboratory |
Chromosome | 8 | NCBI Gene Number | 20539 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables L-amino acid transmembrane transporter activity. Involved in L-leucine transport. Acts upstream of or within L-amino acid transport. Located in plasma membrane. Is expressed in several structures, including central nervous system; cochlea; early conceptus; limb; and reproductive system. Used to study autism spectrum disorder. Human ortholog(s) of this gene implicated in cholangiocarcinoma; colon cancer; hepatocellular carcinoma; and lung squamous cell carcinoma. Orthologous to human SLC7A5 (solute carrier family 7 member 5). PHENOTYPE: Mice homozygous for a targeted mutation die prenatally. [provided by MGI curators] |