From: Organization of the pronephric kidney revealed by large-scale gene expression mapping
Gene/function | Human renal disease | OMIM | Nephron segment | References |
---|---|---|---|---|
SLC3A1/Cystine, dibasic, and neutral amino acid transporter | Cystinuria | 220100 | PT | [90] |
SLC4A4/Na-bicarbonate cotransporter | Proximal renal tubular acidosis with ocular abnormalities and mental retardation | 604278 | PT | [91] |
SLC5A2/Na-glucose cotransporter | Renal glucosuria | 233100 | PT | [92] |
SLC6A19/Neurotransmitter transporter | Hartnup disorder | 234500 | PT | [75,93] |
SLC7A7/Cationic amino acid, y+ system | Lysinuric protein intolerance | 222700 | PT | [94,95] |
SLC34A3/Na-phosphate cotransporter | Hereditary hypophosphatemic rickets with hypercalciuria | 241530 | PT | [96,97] |
CLDN16/tight junction protein | Primary hypomagnesemia; childhood self-limiting hypercalciuria | 248250 | TAL, DCT | [49] |
SLC12A1/Na-K-Cl transporter | Antenatal Bartter syndrome type 1 | 601678 | TAL | [98] |
KCNJ1/inwardly rectifying K channel | Antenatal Bartter syndrome type 2 | 241200 | TAL, DCT, CNT, CD | [99] |
CLCNKB/kidney Cl channel | Bartter syndrome type 3 | 607364 | TAL, DCT, CNT, CD | [100] |
SLC12A3/Na-Cl transporter | Gitelman syndrome | 263800 | DCT | [101] |