Aliases for DNAAF3 Gene
External Ids for DNAAF3 Gene
Previous HGNC Symbols for DNAAF3 Gene
Previous GeneCards Identifiers for DNAAF3 Gene
The protein encoded by this gene is required for the assembly of axonemal inner and outer dynein arms and plays a role in assembling dynein complexes for transport into cilia. Defects in this gene are a cause of primary ciliary dyskinesia type 2 (CILD2). Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012]
GeneCards Summary for DNAAF3 Gene
DNAAF3 (Dynein, Axonemal, Assembly Factor 3) is a Protein Coding gene. Diseases associated with DNAAF3 include ciliary dyskinesia, primary, 2 and primary ciliary dyskinesia 2: dnaaf3-related primary ciliary dyskinesia. Among its related pathways are Tyrosine Kinases / Adaptors and Guidance Cues and Growth Cone Motility. An important paralog of this gene is ENSG00000267110.
UniProtKB/Swiss-Prot for DNAAF3 Gene
Required for the assembly of axonemal inner and outer dynein arms. Involved in preassembly of dyneins into complexes before their transport into cilia.