CCDC114 gene

coiled-coil domain containing 114

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

From NCBI Gene:

This gene encodes a coiled-coil domain-containing protein that is a component of the outer dynein arm docking complex in cilia cells. Mutations in this gene may cause primary ciliary dyskinesia 20. [provided by RefSeq, May 2013]

From UniProt:

Probable component of the outer dynein arm complex required along the entire axoneme for tethering of outer dynein arms.

Covered on Genetics Home Reference:

From NCBI Gene:

  • Ciliary dyskinesia, primary, 20

From UniProt:

Ciliary dyskinesia, primary, 20 (CILD20): 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. Patients may 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. Unlike other forms of CILD characterized by reduced fertility, patients with CILD20 do not appear to be infertile. [MIM:615067]

Cytogenetic Location: 19q13.33, which is the long (q) arm of chromosome 19 at position 13.33

Molecular Location: base pairs 48,296,452 to 48,322,793 on chromosome 19 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 19q13.33, which is the long (q) arm of chromosome 19 at position 13.33
  • CILD20