| Primary Identifier | MGI:1337120 | Organism | mouse, laboratory |
| Chromosome | 14 | NCBI Gene Number | 20540 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 9.1.0) Enables basic amino acid transmembrane transporter activity. Acts upstream of or within L-arginine transmembrane transport. Predicted to be located in basolateral plasma membrane. Predicted to be part of transmembrane transporter complex. Predicted to be active in plasma membrane. Is expressed in heart; intestine; metanephros; and testis. Used to study lysinuric protein intolerance. Human ortholog(s) of this gene implicated in lysinuric protein intolerance. Orthologous to human SLC7A7 (solute carrier family 7 member 7). PHENOTYPE: Homozygous null mice exhibit fetal growth retardation and often die neonatally. After heavy protein ingestion, surviving adults show a metabolic derangement akin to lysinuric protein intolerance and including a lasting postnatal growth retardation, splenomegaly, hyperammonemia, and aminoaciduria. [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
