Aliases for DNAAF5 Gene
External Ids for DNAAF5 Gene
Previous HGNC Symbols for DNAAF5 Gene
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]
GeneCards Summary for DNAAF5 Gene
DNAAF5 (Dynein (Axonemal) Assembly Factor 5) is a Protein Coding gene. Diseases associated with DNAAF5 include Ciliary Dyskinesia, Primary, 18 and Primary Ciliary Dyskinesia18: Heatr2-Related Primary Ciliary Dyskinesia. GO annotations related to this gene include binding and dynein intermediate chain binding.
UniProtKB/Swiss-Prot for DNAAF5 Gene
Cytoplasmic protein involved in the delivery of the dynein machinery to the motile cilium. It is required for the assembly of the axonemal dynein inner and outer arms, two structures attached to the peripheral outer doublet A microtubule of the axoneme, that play a crucial role in cilium motility.