Disease-gene associations mined from literature

Literature associating IFT57 and X-linked spondyloepimetaphyseal dysplasia

IFT57 [ENSP00000264538]

Intraflagellar transport protein 57 homolog; Required for the formation of cilia. Plays an indirect role in sonic hedgehog signaling, cilia being required for all activity of the hedgehog pathway (By similarity). Has pro-apoptotic function via its interaction with HIP1, leading to recruit caspase-8 (CASP8) and trigger apoptosis. Has the ability to bind DNA sequence motif 5'- AAAGACATG-3' present in the promoter of caspase genes such as CASP1, CASP8 and CASP10, suggesting that it may act as a transcription regulator; however the relevance of such function remains unclear.

Synonyms:  IFT57,  IFT57p,  hIFT57,  C9JB84,  F8WBM2 ...

Linkouts:  STRING  Pharos  UniProt  OMIM