Defective SLC22A12 causes renal hypouricemia 1 (RHUC1)

Stable Identifier
R-HSA-5619071
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Pathway
Species
Homo sapiens
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Urate is a naturally occurring product of purine metabolism and is a scavenger of biological oxidants. Uric acid readily precipitates out of aqueous solutions causing gout and kidney stones. Due to this ability, changes in urate levels are implicated in numerous disease processes. The human gene SLC22A12 encodes urate transporter 1 (URAT1), predominantly expressed in the kidney and is involved in the regulation of blood urate levels. This transport can be trans-stimulated by organic anions such as L-lactate (LACT). Defects in SLC22A12 result in idiopathic renal hypouricaemia 1 (RHUC1; MIM:220150), a disorder characterised by impaired urate reabsorption at the apical membrane of proximal renal tubule cells and high urinary urate excretion (Wakida et al. 2005, Esparza Martin & Garcia Nieto 2011).

Literature References
PubMed ID Title Journal Year
21270912 Hypouricemia and tubular transport of uric acid

Esparza Martín, N, García Nieto, V

Nefrologia 2011
15634722 Mutations in human urate transporter 1 gene in presecretory reabsorption defect type of familial renal hypouricemia

Wakida, N, Tuyen, DG, Adachi, M, Miyoshi, T, Nonoguchi, H, Oka, T, Ueda, O, Tazawa, M, Kurihara, S, Yoneta, Y, Shimada, H, Oda, T, Kikuchi, Y, Matsuo, H, Hosoyamada, M, Endou, H, Otagiri, M, Tomita, K, Kitamura, K

J Clin Endocrinol Metab 2005
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Disease
Name Identifier Synonyms
acquired metabolic disease 0060158
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