CFAP298 cilia and flagella associated protein 298
Gene ID: 56683, updated on 5-Mar-2024Gene type: protein coding
Also known as: Kur; FBB18; CILD26; DNAAF16; C21orf48; C21orf59
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- Go to complete Gene record for CFAP298
- Go to Variation Viewer for CFAP298 variants
Summary
This gene encodes a protein that plays a critical role in dynein arm assembly and motile cilia function. Mutations in this gene result in primary ciliary dyskinesia. Naturally occuring readthrough transcription occurs from this locus to the downstream t-complex 10 like (TCP10L) gene. [provided by RefSeq, Apr 2017]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Primary ciliary dyskinesia 26 | See labs |
Genomic context
- Location:
- 21q22.11
- Sequence:
- Chromosome: 21; NC_000021.9 (32599354..32612377, complement)
- Total number of exons:
- 7
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for CFAP298 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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