| Primary Identifier | MGI:1353656 | Organism | mouse, laboratory |
| Chromosome | 7 | NCBI Gene Number | 30962 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Predicted to enable L-cystine transmembrane transporter activity; broad specificity neutral L-amino acid:basic L-amino acid antiporter activity; and protein heterodimerization activity. Predicted to be involved in L-cystine transport and amino acid transmembrane transport. Located in brush border membrane. Is expressed in several structures, including metanephros and midgut. Used to study cystinuria. Human ortholog(s) of this gene implicated in cystinuria. Orthologous to human SLC7A9 (solute carrier family 7 member 9). PHENOTYPE: Inactivation of this locus leads to renal absorption defects and cystine urolithiasis, similar to the symptoms observed in patients with cystinuria. [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
