| 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 7.1.0) Enables basic amino acid transmembrane transporter activity. Acts upstream of or within basic amino acid transmembrane transport and regulation of arginine metabolic process. Predicted to be located in basolateral 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
