DISEASES

Disease-gene associations mined from literature

Literature associating PKD1L1 and cystic kidney disease

PKD1L1 [ENSP00000289672]

Polycystic kidney disease protein 1-like 1; Component of a ciliary calcium channel that controls calcium concentration within primary cilia without affecting cytoplasmic calcium concentration. Forms a heterodimer with PKD2L1 in primary cilia and forms a calcium-permeant ciliary channel that regulates sonic hedgehog/SHH signaling and GLI2 transcription. Does not constitute the pore-forming subunit. Also involved in left/right axis specification downstream of nodal flow: forms a complex with PKD2 in cilia to facilitate flow detection in left/right patterning; Belongs to the polycystin family.

Synonyms:  PKD1L1,  PKD1L1p,  hPKD1L1,  Q8TDX9,  Q8TDX9p ...

Linkouts:  STRING  Pharos  UniProt  OMIM