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GENATLAS PHENOTYPE

last update : 25-03-2020

Symbol	RHU2
Location	4p16.1
Name	renal hypouricemia 2
Corresponding gene	SLC2A9
Other symbol(s)	RHUC2
Main clinical features	characterized by impaired renal urate reabsorption and subsequent low serum urate levels predisposes to exercise‑induced acute renal failure (EIARF) and nephrolithiasis, which is caused by a defect in renal tubular urate transport and is characterized by increased clearance of renal uric acid (PMID: 31638209))
Genetic determination	autosomal recessive
Function/system disorder	kidney and urinary tract
Type	disease

Gene product

Name	glucose transporter 9

Remark(s)