| Primary Identifier | MGI:1195264 | Organism | mouse, laboratory |
| Chromosome | 17 | NCBI Gene Number | 20532 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables protein heterodimerization activity. Involved in carboxylic acid transport and gene expression. Located in brush border membrane. Is active in apical plasma membrane. Is expressed in several structures, including brain; genitourinary system; integumental system; intestine; and respiratory system. Used to study cystinuria. Human ortholog(s) of this gene implicated in cystinuria. Orthologous to human SLC3A1 (solute carrier family 3 member 1). PHENOTYPE: Mutation of this locus results in renal absorption defects and cystine urolithiasis. Homozygous mutant mice serve as a mouse model for human cystinuria type I. [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
