IFT52 intraflagellar transport 52
Gene ID: 51098, updated on 2-Nov-2024Gene type: protein coding
Also known as: NGD2; NGD5; CGI-53; C20orf9
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- Go to complete Gene record for IFT52
- Go to Variation Viewer for IFT52 variants
Summary
This gene encodes a conserved proline-rich protein that is a component of the intraflagellar transport-B (IFT-B) core complex. The encoded protein is essential for the integrity of the IFT-B core complex, and for biosynthesis and maintenance of cilia. Mutations in this gene are associated with ciliopathy that affects the skeleton. [provided by RefSeq, Oct 2016]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Short-rib thoracic dysplasia 16 with or without polydactyly | not available |
Genomic context
- Location:
- 20q13.12
- Sequence:
- Chromosome: 20; NC_000020.11 (43590937..43647299)
- Total number of exons:
- 15
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for IFT52 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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