DISEASES

Disease-gene associations mined from literature

Literature associating PKD1 and Bardet-Biedl syndrome 17

PKD1 [ENSP00000262304]

Autosomal dominant polycystic kidney disease 1 protein; Involved in renal tubulogenesis. Involved in fluid-flow mechanosensation by the primary cilium in renal epithelium (By similarity). Acts as a regulator of cilium length, together with PKD2 (By similarity). The dynamic control of cilium length is essential in the regulation of mechanotransductive signaling (By similarity). The cilium length response creates a negative feedback loop whereby fluid shear- mediated deflection of the primary cilium, which decreases intracellular cAMP, leads to cilium shortening and thus decreases flow-induced signaling (By similarity). May be an ion-channel regulator. Involved in adhesive protein-protein and protein- carbohydrate interactions; Belongs to the polycystin family.

Synonyms:  LOC101930075,  PKD1p,  hPKD1,  H3BTE0,  H3BTG3 ...

Linkouts:  STRING  Pharos  UniProt  OMIM