Aliases for IFT172 Gene
External Ids for IFT172 Gene
Previous GeneCards Identifiers for IFT172 Gene
This gene encodes a subunit of the intraflagellar transport subcomplex IFT-B. Subcomplexes IFT-A and IFT-B are necessary for ciliary assembly and maintenance. Mutations in this gene have been associated with skeletal ciliopathies, with or without polydactyly, such as such short-rib thoracic dysplasias 1, 9 or 10. [provided by RefSeq, Mar 2014]
GeneCards Summary for IFT172 Gene
IFT172 (Intraflagellar Transport 172) is a Protein Coding gene. Diseases associated with IFT172 include Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly and Retinitis Pigmentosa 71. Among its related pathways are Signaling by GPCR and Hedgehog signaling events mediated by Gli proteins. Gene Ontology (GO) annotations related to this gene include binding. An important paralog of this gene is IFT140.
UniProtKB/Swiss-Prot Summary for IFT172 Gene
Required for the maintenance and formation of cilia. Plays an indirect role in hedgehog (Hh) signaling, cilia being required for all activity of the hedgehog pathway (By similarity).