DNAAF5 dynein axonemal assembly factor 5

Gene ID: 54919, updated on 13-Apr-2024
Gene type: protein coding
Also known as: CILD18; HEATR2

Summary

The protein encoded by this gene is essential for the preassembly or stability of axonemal dynein arms, and is found only in organisms with motile cilia and flagella. Mutations in this gene are associated with primary ciliary dyskinesia-18, a disorder characterized by abnormalities of motile cilia. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Feb 2013]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Ciliary dyskinesia MedGen: C0008780GeneReviews: Primary Ciliary Dyskinesia	See labs
Primary ciliary dyskinesia 18 MedGen: C3543825OMIM: 614874GeneReviews: Primary Ciliary Dyskinesia	See labs

Genomic context

Location:: 7p22.3

Sequence:: Chromosome: 7; NC_000007.14 (726699..786475)

Total number of exons:: 13

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	Variation Viewer for DNAAF5 variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
Variation Viewer
Related Variants

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