Gene: DNAAF5

Alternate names for this Gene: CILD18|HEATR2

Gene 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.

Gene is located in Chromosome: 7

Location in Chromosome : 7p22.3

Description of this Gene: dynein axonemal assembly factor 5

Type of Gene: protein-coding

rs397514561 in DNAAF5 gene and CILIARY DYSKINESIA, PRIMARY, 18 PMID 23040496 2012 Whole-exome capture and sequencing identifies HEATR2 mutation as a cause of primary ciliary dyskinesia.

PMID 25232951 2014 HEATR2 plays a conserved role in assembly of the ciliary motile apparatus.

rs397514561 in DNAAF5 gene and Ciliary Motility Disorders PMID 23040496 2012 Whole-exome capture and sequencing identifies HEATR2 mutation as a cause of primary ciliary dyskinesia.

PMID 24307375 2014 Robust diagnostic genetic testing using solution capture enrichment and a novel variant-filtering interface.

PMID 25232951 2014 HEATR2 plays a conserved role in assembly of the ciliary motile apparatus.