Gene: IFT172

Alternate names for this Gene: BBS20|NPHP17|RP71|SLB|SRTD10|osm-1|wim

Gene 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.

Gene is located in Chromosome: 2

Location in Chromosome : 2p23.3

Description of this Gene: intraflagellar transport 172

Type of Gene: protein-coding

rs1260345 in IFT172 gene and Arthritis, Gouty PMID 23263486 2013 Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.

PMID 20884846 2010 Multiple genetic loci influence serum urate levels and their relationship with gout and cardiovascular disease risk factors.

rs587777079 in IFT172 gene and Familial aplasia of the vermis PMID 26092869 2015 Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.

rs780110 in IFT172 gene and Fasting blood glucose measurement PMID 22885924 2012 Large-scale association analyses identify new loci influencing glycemic traits and provide insight into the underlying biological pathways.

rs780110 in IFT172 gene and Fasting blood sugar result PMID 22885924 2012 Large-scale association analyses identify new loci influencing glycemic traits and provide insight into the underlying biological pathways.

rs1260345 in IFT172 gene and Gout PMID 23263486 2013 Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.

PMID 20884846 2010 Multiple genetic loci influence serum urate levels and their relationship with gout and cardiovascular disease risk factors.

rs587777079 in IFT172 gene and SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY PMID 24140113 2013 Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans.

rs151269177 in IFT172 gene and Serum total cholesterol measurement PMID 30718733 2019 The Korea Biobank Array: Design and Identification of Coding Variants Associated with Blood Biochemical Traits.