renal hypouricemia type 2(English)
- OMIM #612076. Caused by mutations in the SLC2A9 gene which encodes GLUT9. Its long variant GLUT9L is the only major urate efflux transporter at the basolateral membrane, explaining why homozygous loss-of-function mutations of GLUT9 cause a total defect of uric acid tubular absorption
- GLUT9, RHUC, RHUC1
- Kidney and adrenals, Genetics
- https://doi.org…55/2021/4751099