| Primary Identifier | MGI:99486 | Organism | mouse, laboratory |
| Chromosome | X | NCBI Gene Number | 12728 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable identical protein binding activity and voltage-gated chloride channel activity. Acts upstream of or within endocytosis. Located in apical part of cell and endosome. Is expressed in several structures, including early conceptus; heart; metanephros; oocyte; and stomach. Used to study Dent disease. Human ortholog(s) of this gene implicated in Dent disease 1; X-linked nephrolithiasis type I; X-linked recessive hypophosphatemic rickets; and low molecular weight proteinuria with hypercalciuric nephrocalcinosis. Orthologous to human CLCN5 (chloride voltage-gated channel 5). PHENOTYPE: Mice homozyous for targeted mutations that inactivate this gene display impaired endocytosis of filtered proteins by kidney proximal tubular cells and provide a model of Dent's disease. [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
