Table 3

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

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]

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

Raciti et al. Genome Biology 2008 9:R84   doi:10.1186/gb-2008-9-5-r84