DISEASES

Disease-gene associations mined from literature

Literature associating TCTN2 and short-rib thoracic dysplasia 6 with or without polydactyly

TCTN2 [ENSP00000304941]

Tectonic-2; Component of the tectonic-like complex, a complex localized at the transition zone of primary cilia and acting as a barrier that prevents diffusion of transmembrane proteins between the cilia and plasma membranes. Required for hedgehog signaling transduction (By similarity).

Synonyms:  TCTN2,  TCTN2p,  hTCTN2,  F5H6G0,  Q96GX1 ...

Linkouts:  STRING  Pharos  UniProt  OMIM