DISEASES

Disease-gene associations mined from literature

Literature associating SLC14A1 and Melnick-Needles syndrome

SLC14A1 [ENSP00000390637]

Solute carrier family 14 (urea transporter), member 1 (Kidd blood group); Urea channel that facilitates transmembrane urea transport down a concentration gradient. A constriction of the transmembrane channel functions as selectivity filter through which urea is expected to pass in dehydrated form. The rate of urea conduction is increased by hypotonic stress. Plays an important role in the kidney medulla collecting ducts, where it allows rapid equilibration between the lumen of the collecting ducts and the interstitium, and thereby prevents water loss driven by the high concentration of urea in the urine. Facilitates urea transport across erythrocyte membranes. May also play a role in transmembrane water transport, possibly by indirect means.

Synonyms:  SLC14A1,  SLC14A1p,  hSLC14A1,  B3KXJ3,  B4DFJ8 ...

Linkouts:  STRING  Pharos  UniProt  OMIM