DNAAF3 dynein axonemal assembly factor 3
Gene ID: 352909, updated on 17-Sep-2024Gene type: protein coding
Also known as: PCD; DAB1; PF22; CILD2; C19orf51
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- Go to complete Gene record for DNAAF3
- Go to Variation Viewer for DNAAF3 variants
Summary
The protein encoded by this gene is required for the assembly of axonemal inner and outer dynein arms and plays a role in assembling dynein complexes for transport into cilia. Defects in this gene are a cause of primary ciliary dyskinesia type 2 (CILD2). Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Primary ciliary dyskinesia 2 | See labs |
Genomic context
- Location:
- 19q13.42
- Sequence:
- Chromosome: 19; NC_000019.10 (55158661..55166722, complement)
- Total number of exons:
- 12
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for DNAAF3 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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