Sodium Dependent Phosphate Transport Protein 1 (NPT1)

The sodium-phosphate cotransport system, located in the proximal convoluted renal tubule, is essential to phosphate homeostasis in animals and humans. By low stringency screening of a human kidney cortex cDNA library with a rabbit NaPi1 cDNA, Chong et al. (1993) isolated a cDNA encoding a human sodium-dependent phosphate transport protein. By Southern hybridization to HindIII-digested DNA from a monochromosomal human-rodent somatic cell hybrid panel, Chong et al. (1993) mapped the human NPT1 gene to chromosome 6. Localization to 6p23-p21.3 was found by Southern hybridization to HindIII-digested DNA from a human chromosome 6 somatic cell hybrid deletion panel. SLC17A1 locus as the third associated with gout at a genome-wide level of significance.