Gene Symbol | IFT172 |
Entrez Gene ID | 26160 |
Full Name | intraflagellar transport 172 |
Synonyms | BBS20,NPHP17,RP71,SLB,SRTD10,osm-1,wim |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Short-rib thoracic dysplasia 10 with or without polydactyly, 615630 (3); Retinitis pigmentosa 71, 616394 (3) |