Disease-gene associations mined from literature

Literature associating IFT27 and Beemer-Langer syndrome

IFT27 [ENSP00000393541]

Intraflagellar transport protein 27 homolog; Small GTPase-like component of the intraflagellar transport (IFT) complex B that promotes the exit of the BBSome complex from cilia via its interaction with ARL6. Not involved in entry of the BBSome complex into cilium. Prevents aggregation of GTP-free ARL6. Required for hedgehog signaling. Forms a subcomplex within the IFT complex B with IFT25 (By similarity).

Synonyms:  IFT27,  IFT27p,  hIFT27,  B1AH56,  B1AH58 ...

Linkouts:  STRING  Pharos  UniProt  OMIM