CCDC39 gene

coiled-coil domain containing 39

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

The protein encoded by this gene is involved in the motility of cilia and flagella. The encoded protein is essential for the assembly of dynein regulatory and inner dynein arm complexes, which regulate ciliary beat. Defects in this gene are a cause of primary ciliary dyskinesia type 14 (CILD14). [provided by RefSeq, Jul 2011]

From UniProt:

Required for assembly of dynein regulatory complex (DRC) and inner dynein arm (IDA) complexes, which are responsible for ciliary beat regulation, thereby playing a central role in motility in cilia and flagella (PubMed:21131972). Probably acts together with CCDC40 to form a molecular ruler that determines the 96 nanometer (nm) repeat length and arrangements of components in cilia and flagella (By similarity). Not required for outer dynein arm complexes assembly (PubMed:21131972).

Covered on Genetics Home Reference:

From NCBI Gene:

  • Ciliary dyskinesia, primary, 14

From UniProt:

Ciliary dyskinesia, primary, 14 (CILD14): A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia; reduced fertility is often observed in male patients due to abnormalities of sperm tails. Half of the patients exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome. [MIM:613807]

Cytogenetic Location: 3q26.33, which is the long (q) arm of chromosome 3 at position 26.33

Molecular Location: base pairs 180,614,008 to 180,679,495 on chromosome 3 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 3q26.33, which is the long (q) arm of chromosome 3 at position 26.33
  • CILD14
  • FAP59