DNAH5 dynein axonemal heavy chain 5
Gene ID: 1767, updated on 3-Nov-2024Gene type: protein coding
Also known as: HL1; PCD; CILD3; KTGNR; DNAHC5
- See all available tests in GTR for this gene
- Go to complete Gene record for DNAH5
- Go to Variation Viewer for DNAH5 variants
Summary
This gene encodes a dynein protein, which is part of a microtubule-associated motor protein complex consisting of heavy, light, and intermediate chains. This protein is an axonemal heavy chain dynein. It functions as a force-generating protein with ATPase activity, whereby the release of ADP is thought to produce the force-producing power stroke. Mutations in this gene cause primary ciliary dyskinesia type 3, as well as Kartagener syndrome, which are both diseases due to ciliary defects. [provided by RefSeq, Oct 2009]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A genome-wide meta-analysis of genetic variants associated with allergic rhinitis and grass sensitization and their interaction with birth order. GeneReviews: Not available | |
| A genome-wide search for loci interacting with known prostate cancer risk-associated genetic variants. GeneReviews: Not available | |
| Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women. GeneReviews: Not available | |
| Genome-wide association study for subclinical atherosclerosis in major arterial territories in the NHLBI's Framingham Heart Study. GeneReviews: Not available | |
| Identification of a candidate gene for astigmatism. GeneReviews: Not available | |
| Primary ciliary dyskinesia 3 | not available |
Genomic context
- Location:
- 5p15.2
- Sequence:
- Chromosome: 5; NC_000005.10 (13690328..14011818, complement)
- Total number of exons:
- 86
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for DNAH5 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- DNAH5 @ LOVD
- 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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