IFT172 intraflagellar transport 172 [ Homo sapiens (human) ] - Gene - Data resources

26160

IFT172 intraflagellar transport 172 [ Homo sapiens (human) ]
Source: NCBI Gene (ID 26160)

Symbol: IFT172

Full name: intraflagellar transport 172

Gene type: protein coding

RefSeq status: REVIEWED

Also known as: BBS20; NPHP17; RP71; SLB; SRTD10; osm-1; wim

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]

Expression: Broad expression in testis (RPKM 10.6), ovary (RPKM 4.6) and 25 other tissues

Orthologs: mouse

Gene size: 45367bp

Exon count: 53