Aliases for IFT140 Gene
External Ids for IFT140 Gene
Previous HGNC Symbols for IFT140 Gene
Previous GeneCards Identifiers for IFT140 Gene
This gene encodes one of the subunits of the intraflagellar transport (IFT) complex A. Intraflagellar transport is involved in the genesis, resorption and signaling of primary cilia. The primary cilium is a microtubule-based sensory organelle at the surface of most quiescent mammalian cells, that receives signals from its environment, such as the flow of fluid, light or odors, and transduces those signals to the nucleus. Loss of the corresponding protein in mouse results in renal cystic disease. [provided by RefSeq, Jun 2012]
GeneCards Summary for IFT140 Gene
IFT140 (Intraflagellar Transport 140) is a Protein Coding gene. Diseases associated with IFT140 include Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly and Retinitis Pigmentosa 80. Among its related pathways are Intraflagellar transport and Signaling by Hedgehog. Gene Ontology (GO) annotations related to this gene include binding. An important paralog of this gene is IFT172.
UniProtKB/Swiss-Prot Summary for IFT140 Gene
Component of the IFT complex A (IFT-A), a complex required for retrograde ciliary transport and entry into cilia of G protein-coupled receptors (GPCRs) (PubMed:20889716, PubMed:22503633). Plays a pivotal role in proper development and function of ciliated cells through its role in ciliogenesis and/or cilium maintenance (PubMed:22503633). Required for the development and maintenance of the outer segments of rod and cone photoreceptor cells. Plays a role in maintenance and the delivery of opsin to the outer segment of photoreceptor cells (By similarity).