DISEASES

Disease-gene associations mined from literature

Literature associating TULP3 and asphyxiating thoracic dystrophy 3

TULP3 [ENSP00000380321]

Tubby-related protein 3; Negative regulator of the Shh signaling transduction pathway: recruited to primary cilia via association with the IFT complex A (IFT-A) and is required for recruitment of G protein- coupled receptor GPR161 to cilia, a promoter of PKA-dependent basal repression machinery in Shh signaling. Binds to phosphorylated inositide (phosphoinositide) lipids. Both IFT- A- and phosphoinositide-binding properties are required to regulate ciliary G protein-coupled receptor trafficking. Not involved in ciliogenesis; Belongs to the TUB family.

Synonyms:  TULP3,  TULP3p,  hTULP3,  B7Z6A2,  F5GWL5 ...

Linkouts:  STRING  Pharos  UniProt  OMIM