IFT43 intraflagellar transport 43
Gene ID: 112752, updated on 5-Mar-2024Gene type: protein coding
Also known as: CED3; RP81; SRTD18; C14orf179
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- Go to complete Gene record for IFT43
- Go to Variation Viewer for IFT43 variants
Summary
This gene encodes a subunit of the intraflagellar transport complex A (IFT-A). IFT-A is a multiprotein complex that plays an important role in cilia assembly and maintenance by mediating retrograde ciliary transport. Mutations in this gene are a cause of cranioectodermal dysplasia-3 (CED3), also known as Sensenbrenner syndrome. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]
Associated conditions
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| Description | Tests |
|---|---|
| Cranioectodermal dysplasia 3 | See labs |
| Genome-wide association study in NSAID-induced acute urticaria/angioedema in Spanish and Han Chinese populations. GeneReviews: Not available | |
| Retinitis pigmentosa 81 | See labs |
| Short-rib thoracic dysplasia 18 with polydactyly | See labs |
Genomic context
- Location:
- 14q24.3
- Sequence:
- Chromosome: 14; NC_000014.9 (75985763..76084073)
- Total number of exons:
- 11
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for IFT43 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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