IFT57

IFT57 (Intraflagellar Transport 57) is a Protein Coding gene. Diseases associated with IFT57 include Huntington Disease and Bardet-Biedl Syndrome. Among its related pathways are Organelle biogenesis and maintenance and Intraflagellar transport.

Intraflagellar transport protein p57/55

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.

Activation of cysteine-type endopeptidase activity involved in apoptotic process Source: MGI
Apoptotic process Source: MGI
Heart looping Source: Ensembl
Intraciliary transport Source: GO_Central
Left/right pattern formation Source: Ensembl
Motile cilium assembly Source: Ensembl
Negative regulation of epithelial cell proliferation Source: Ensembl
Neural tube closure Source: Ensembl
Non-motile cilium assembly Source: GO_Central
Regulation of apoptotic process Source: MGI
Smoothened signaling pathway Source: Ensembl

Cilium basal body. Concentrates within the inner segment of cilia.

Orofaciodigital syndrome 18 (OFD18):
A form of orofaciodigital syndrome, a group of heterogeneous disorders characterized by malformations of the oral cavity, face and digits, and associated phenotypic abnormalities that lead to the delineation of various subtypes. OFD18 is an autosomal recessive form characterized by short stature, brachymesophalangy, pre- and postaxial polysyndactyly, and stocky femoral necks, as well as oral anomalies and dysmorphic facial features.