Aliases for DNAAF1 Gene
External Ids for DNAAF1 Gene
Previous HGNC Symbols for DNAAF1 Gene
Previous GeneCards Identifiers for DNAAF1 Gene
The protein encoded by this gene is cilium-specific and is required for the stability of the ciliary architecture. It is involved in the regulation of microtubule-based cilia and actin-based brush border microvilli. Mutations in this gene are associated with primary ciliary dyskinesia-13. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]
GeneCards Summary for DNAAF1 Gene
DNAAF1 (Dynein Axonemal Assembly Factor 1) is a Protein Coding gene. Diseases associated with DNAAF1 include Ciliary Dyskinesia, Primary, 13 and Primary Ciliary Dyskinesia. GO annotations related to this gene include dynein binding. An important paralog of this gene is PPP1R42.
UniProtKB/Swiss-Prot for DNAAF1 Gene
Cilium-specific protein required for the stability of the ciliary architecture. Plays a role in cytoplasmic preassembly of dynein arms. Involved in regulation of microtubule-based cilia and actin-based brush border microvilli.