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.
For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.
Protein Aliases: dynein (axonemal) assembly factor 5; Dynein axonemal assembly factor 5; dynein, axonemal, assembly factor 5; HEAT repeat containing 2; HEAT repeat-containing protein 2
Gene Aliases: CILD18; DNAAF5; HEATR2
UniProt ID: (Human) Q86Y56
Molecular Function: chaperone