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] |