Target intelligence / Profile preview

Dynein axonemal assembly factor 9 (DNAAF9)

Target
DNAAF9
Molecular classification
Other, Cytoplasmic assembly factor
01

Overview

Dynein axonemal assembly factor 9 (DNAAF9) is a protein involved in the assembly and regulation of outer dynein arms (ODAs), key motor complexes essential for ciliary/flagellar movement in motile cilia. DNAAF9 is required for the proper transport, assembly, and activation of these axonemal dynein complexes. Mutations in DNAAF9 are associated with motile ciliopathies manifesting as primary microcephaly and retinitis pigmentosa in humans. DNAAF9 (also known as Shulin or C20orf194) is distinguished by the presence of a C-terminal coiled-coil domain and functions as an effector molecule, potentially interacting with ARL3. It is not currently a recognized therapeutic target (e.g., for pharmacological intervention), but its role in ciliary biology makes it significant in rare genetic disorders related to ciliary function[1][2][4][7].

Other names
C20orf194ShulinDKFZp434N061uncharacterized protein C20orf194dynein axonemal assembly factor 9shulin
02

Biological functions

Axonemal dynein assemblyRegulation of transport and activation of outer dynein arms in ciliaPotential effector for ARL3Involved in motile cilia functionCiliary/flagellar movement and structure
03

Disease associations

Primary microcephaly (autosomal recessive)Retinitis pigmentosaCiliary dysfunction (motile ciliopathies, as inferred from its function)Spinocerebellar ataxia region candidate (but currently not a direct disease gene)
04

Safety considerations

Disruption can cause ciliary dysfunction, primary microcephaly, and retinitis pigmentosa due to defective dynein arm assembly and impaired ciliary motility

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