Aliases for DNAAF2 Gene
External Ids for DNAAF2 Gene
Previous HGNC Symbols for DNAAF2 Gene
Previous GeneCards Identifiers for DNAAF2 Gene
This gene encodes a highly conserved protein involved in the preassembly of dynein arm complexes which power cilia. These complexes are found in some cilia and are assembled in the cytoplasm prior to transport for cilia formation. Mutations in this gene have been associated with primary ciliary dyskinesia. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2009]
GeneCards Summary for DNAAF2 Gene
DNAAF2 (Dynein Axonemal Assembly Factor 2) is a Protein Coding gene. Diseases associated with DNAAF2 include Ciliary Dyskinesia, Primary, 10 and Primary Ciliary Dyskinesia10: Dnaaf2-Related Primary Ciliary Dyskinesia.
UniProtKB/Swiss-Prot for DNAAF2 Gene
Required for cytoplasmic pre-assembly of axonemal dyneins, thereby playing a central role in motility in cilia and flagella. Involved in pre-assembly of dynein arm complexes in the cytoplasm before intraflagellar transport loads them for the ciliary compartment.