Aliases for IFT57 Gene
External Ids for IFT57 Gene
Previous HGNC Symbols for IFT57 Gene
Previous GeneCards Identifiers for IFT57 Gene
GeneCards Summary for IFT57 Gene
IFT57 (Intraflagellar Transport 57) is a Protein Coding gene. Diseases associated with IFT57 include Orofaciodigital Syndrome Xviii and Oral-Facial-Digital Syndrome With Short Stature And Brachymesophalangia. Among its related pathways are Organelle biogenesis and maintenance and Intraflagellar transport.
UniProtKB/Swiss-Prot for IFT57 Gene
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.