Disease-gene associations mined from literature

Literature associating PKD2L1 and blepharoconjunctivitis

PKD2L1 [ENSP00000325296]

Polycystic kidney disease 2-like 1 protein; Pore-forming subunit of a ciliary calcium channel that controls calcium concentration within primary cilia without affecting cytoplasmic calcium concentration. Forms a heterodimer with PKD1L1 in primary cilia and forms a calcium-permeant ciliary channel that regulates sonic hedgehog/SHH signaling and GLI2 transcription. May act as a sour taste receptor by forming a calcium channel with PKD1L3 in gustatory cells; however, its contribution to sour taste perception is unclear in vivo and may be indirect; Belongs to the polycystin family.

Synonyms:  PKD2L1,  PKD2L1p,  hPKD2L1,  E9PRD1,  PKD2L1-001 ...

Linkouts:  STRING  Pharos  UniProt  OMIM