DNAAF11 dynein axonemal assembly factor 11
Gene ID: 23639, updated on 10-Oct-2024Gene type: protein coding
Also known as: LRTP; tilB; LRRC6; TSLRP; CILD19
- See all available tests in GTR for this gene
- Go to complete Gene record for DNAAF11
- Go to Variation Viewer for DNAAF11 variants
Summary
The protein encoded by this gene contains several leucine-rich repeat domains and appears to be involved in the motility of cilia. Defects in this gene are a cause of primary ciliary dyskinesia-19 (CILD19). Alternative splicing of this gene results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 4, 11 and 22. [provided by RefSeq, Apr 2016]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Primary ciliary dyskinesia 19 | See labs |
Genomic context
- Location:
- 8q24.22
- Sequence:
- Chromosome: 8; NC_000008.11 (132570416..132702913, complement)
- Total number of exons:
- 20
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for DNAAF11 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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