Entrez Summary: This gene encodes a protein containing coiled-coil domains. The encoded protein functions in outer dynein arm assembly and is required for motile cilia function. Mutations in this gene result in primary ciliary dyskinesia. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2014].
UniProt Summary: Ciliary protein involved in outer dynein arm assembly and required for motile cilia function. {ECO:0000250|UniProtKB:Q8BSN3}.
Pfam DomainsGO Terms
Pfam Domains
No Pfam Domain information is available for this gene.
GO Terms
outer dynein arm assembly
axonemal dynein complex assembly
cilium movement
axoneme assembly
regulation of cilium assembly
microtubule bundle formation
axoneme
determination of left/right symmetry
determination of bilateral symmetry
specification of symmetry
ciliary basal body
centriole
cilium
regulation of plasma membrane bounded cell projection assembly
regulation of cell projection assembly
regulation of organelle assembly
microtubule-based movement
cilium assembly
cilium organization
pattern specification process
plasma membrane bounded cell projection assembly
cell projection assembly
microtubule cytoskeleton organization
microtubule-based process
regulation of plasma membrane bounded cell projection organization