IFT172 (Entrez ID: 26160)

Entrez Gene ID 26160
Official Gene Symbol IFT172 (GeneCards)
Full name intraflagellar transport 172
Location 2p23.3
Other ids Vega : OTTHUMG00000128425
MIM : 607386
HGNC : HGNC:30391
Ensembl : ENSG00000138002
Other names SLB, wim, RP71, BBS20, osm-1, NPHP17, SRTD10
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]

Variants

Found 1 variant in this database.