DNAH11 dynein axonemal heavy chain 11
Gene ID: 8701, updated on 11-Apr-2024Gene type: protein coding
Also known as: CILD7; DNHBL; DPL11; DNAHBL; DNAHC11
- See all available tests in GTR for this gene
- Go to complete Gene record for DNAH11
- Go to Variation Viewer for DNAH11 variants
Summary
This gene encodes a ciliary outer dynein arm protein and is a member of the dynein heavy chain family. It is a microtubule-dependent motor ATPase and has been reported to be involved in the movement of respiratory cilia. Mutations in this gene have been implicated in causing Kartagener Syndrome (a combination of situs inversus totalis and Primary Ciliary Dyskinesia (PCD), also called Immotile Cilia Syndrome 1 (ICS1)) and male sterility. [provided by RefSeq, Mar 2013]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Biological, clinical and population relevance of 95 loci for blood lipids. GeneReviews: Not available | |
| Common variation at 3p22.1 and 7p15.3 influences multiple myeloma risk. GeneReviews: Not available | |
| Discovery and refinement of loci associated with lipid levels. GeneReviews: Not available | |
| Genetic susceptibility to accelerated cognitive decline in the US Health and Retirement Study. GeneReviews: Not available | |
| Genetic variants at 6p21.1 and 7p15.3 are associated with risk of multiple cancers in Han Chinese. GeneReviews: Not available | |
| Genome-wide association with MRI atrophy measures as a quantitative trait locus for Alzheimer's disease. GeneReviews: Not available | |
| Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts. GeneReviews: Not available | |
| Primary ciliary dyskinesia 7 | See labs |
| The CCND1 c.870G>A polymorphism is a risk factor for t(11;14)(q13;q32) multiple myeloma. GeneReviews: Not available |
Genomic context
- Location:
- 7p15.3
- Sequence:
- Chromosome: 7; NC_000007.14 (21543039..21901839)
- Total number of exons:
- 82
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for DNAH11 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- DNAH11 @ 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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