IFT172 intraflagellar transport 172
Gene ID: 26160, updated on 17-Sep-2024Gene type: protein coding
Also known as: SLB; wim; RP71; BBS20; osm-1; NPHP17; SRTD10
- See all available tests in GTR for this gene
- Go to complete Gene record for IFT172
- Go to Variation Viewer for IFT172 variants
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Bardet-Biedl syndrome 20 | See labs |
| Common variants in the calcium-sensing receptor gene are associated with total serum calcium levels. GeneReviews: Not available | |
| Genomic study in Mexicans identifies a new locus for triglycerides and refines European lipid loci. GeneReviews: Not available | |
| Nephronophthisis MedGen: C0687120GeneReviews: Nephronophthisis-Related Ciliopathies | See labs |
| New loci associated with kidney function and chronic kidney disease. GeneReviews: Not available | |
| Retinitis pigmentosa 71 | See labs |
| Short-rib thoracic dysplasia 10 with or without polydactyly | See labs |
Genomic context
- Location:
- 2p23.3
- Sequence:
- Chromosome: 2; NC_000002.12 (27444377..27489743, complement)
- Total number of exons:
- 53
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for IFT172 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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