dynein assembly factor 3, axonemal (DNAAF3, C19orf51, CILD2)

Function

• required for the assembly of axonemal inner & outer dynein arms
• role in preassembly of dyneins into complexes before their transport into cilia

Structure

belongs to the DNAAF3 family

Compartment

cytoplasm (putative)

Alternative splicing

• named isoforms=4
• at least one isoform may be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay

Pathology

• defects in DAAF3 are the cause of primary ciliary dyskinesia type 2

More general terms

• other protein

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=352909
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:352909
• OMIM: https://mirror.omim.org/entry/606763
• OMIM: https://mirror.omim.org/entry/614566
• UniProt: http://www.uniprot.org/uniprot/Q8N9W5.html