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GENATLAS PHENOTYPE

last update : 01-07-2016

Symbol	NPHL3
Location	4p16.3
Name	nephrolithiasis 3
Corresponding gene	SLC26A1
Main clinical features	urinary supersaturation leading to stone formation in the urinary system
Genetic determination	autosomal recessive
Function/system disorder	kidney and urinary tract
	metabolism/metal
Type	disease

Remark(s)

identified mutations in SLC26A1 result in decreased transporter activity (PMID: 27210743))