DNAAF19 dynein axonemal assembly factor 19
Gene ID: 388389, updated on 2-Nov-2024Gene type: protein coding
Also known as: SMH; PR46b; CILD17; CCDC103
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- Go to complete Gene record for DNAAF19
- Go to Variation Viewer for DNAAF19 variants
Summary
Enables protein homodimerization activity. Involved in axonemal dynein complex assembly; cilium movement; and determination of left/right symmetry. Predicted to be located in axoneme. Predicted to be part of outer dynein arm. Implicated in primary ciliary dyskinesia 17. [provided by Alliance of Genome Resources, Nov 2024]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Primary ciliary dyskinesia 17 | See labs |
Genomic context
- Location:
- 17q21.31
- Sequence:
- Chromosome: 17; NC_000017.11 (44899729..44905390)
- Total number of exons:
- 4
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for DNAAF19 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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