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. An important paralog of this gene is LRRCC1.
UniProtKB/Swiss-Prot Summary 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.