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 8.0.0) Predicted to enable amino acid transmembrane transporter activity; peptide antigen binding 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] |