CCDC103 gene

coiled-coil domain containing 103

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

From NCBI Gene:

This gene encodes a protein that contains a coiled-coil domain. [provided by RefSeq, Apr 2012]

From UniProt:

Dynein-attachment factor required for cilia motility.

Covered on Genetics Home Reference:

From NCBI Gene:

  • Ciliary dyskinesia, primary, 17

From UniProt:

Ciliary dyskinesia, primary, 17 (CILD17): 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:614679]

Cytogenetic Location: 17q21.31, which is the long (q) arm of chromosome 17 at position 21.31

Molecular Location: base pairs 44,899,712 to 44,903,679 on chromosome 17 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 17q21.31, which is the long (q) arm of chromosome 17 at position 21.31
  • CILD17
  • PR46b
  • SMH