Gene Symbol | IFT74 |
Entrez Gene ID | 80173 |
Full Name | intraflagellar transport 74 |
Synonyms | BBS20,CCDC2,CMG-1,CMG1 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(Human) |
Genome | |
Summary | This gene encodes a core intraflagellar transport (IFT) protein which belongs to a multi-protein complex involved in the transport of ciliary proteins along axonemal microtubules. IFT proteins are found at the base of the cilium as well as inside the cilium, where they assemble into long arrays between the ciliary base and tip. This protein, together with intraflagellar transport protein 81, binds and transports tubulin within cilia and is required for ciliogenesis. Naturally occurring mutations in this gene are associated with amyotrophic lateral sclerosis--frontotemporal dementia and Bardet-Biedl Syndrome. [provided by RefSeq, Mar 2017]. |
Disorder MIM: | |
Disorder Html: | ?Bardet-Biedl syndrome 20, 617119 (3) |