DISEASES

Disease-gene associations mined from literature

Literature associating SLC4A11 and Peters anomaly

SLC4A11 [ENSP00000369399]

Solute carrier family 4, sodium borate transporter, member 11; Transporter which plays an important role in sodium- mediated fluid transport in different organs. Prevents severe morphological changes of the cornea caused by increased sodium chloride concentrations in the stroma. In the inner ear, is involved in transport of potassium through the fibrocyte layer to the stria vascularis and is essential for the generation of the endocochlear potential but not for regulation of potassium concentrations in the endolymph. In the kidney, is essential for urinary concentration, mediates a sodium flux into the thin descending limb of Henle loop to allow countercurrent multiplication by osmotic equilibration (By similarity). Involved in borate homeostasis. In the absence of borate, it functions as a Na(+) and OH(-)(H(+)) channel. In the presence of borate functions as an electrogenic Na(+) coupled borate cotransporter; Solute carriers

Synonyms:  SLC4A11,  SLC4A11p,  hSLC4A11,  Q8NBS3,  R9UMG9 ...

Linkouts:  STRING  Pharos  UniProt  OMIM