Disease-gene associations mined from literature

Literature associating SLC17A3 and Fanconi renotubular syndrome 2

SLC17A3 [ENSP00000380250]

Solute carrier family 17 (organic anion transporter), member 3; Isoform 2: voltage-driven, multispecific, organic anion transporter able to transport para-aminohippurate (PAH), estrone sulfate, estradiol-17-beta-glucuronide, bumetanide, and ochratoxin A. Isoform 2 functions as urate efflux transporter on the apical side of renal proximal tubule and is likely to act as an exit path for organic anionic drugs as well as urate in vivo. May be involved in actively transporting phosphate into cells via Na(+) cotransport; Belongs to the major facilitator superfamily. Sodium/anion cotransporter family.

Synonyms:  SLC17A3,  SLC17A3p,  hSLC17A3,  A0A024QZX7,  E9PBQ8 ...

Linkouts:  STRING  Pharos  UniProt  OMIM