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Table 3 Human renal disease genes that have Xenopus orthologs expressed in the pronephric kidney

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]
  1. CD, collecting duct; CNT, connecting tubule; DCT, distal convoluted tubule; OMIM, Online Mendelian Inheritance in Man; PT, proximal tubule; TAL, thick ascending limb.