CCDC65 gene

coiled-coil domain containing 65

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

From NCBI Gene:

This gene encodes a sperm tail protein that is highly expressed in adult testis, spermatocytes and spermatids. The protein plays a critical role in the assembly of the nexin-dynein regulatory complex. Mutations in this gene result in primary ciliary dyskinesia. [provided by RefSeq, Nov 2013]

From UniProt:

May play a role in motile cilia function, possibly by acting on the assembly of the nexin-dynein regulatory complex.

Covered on Genetics Home Reference:

From NCBI Gene:

  • Ciliary dyskinesia, primary, 27

From UniProt:

Ciliary dyskinesia, primary, 27 (CILD27): 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. [MIM:615504]

Cytogenetic Location: 12q13.12, which is the long (q) arm of chromosome 12 at position 13.12

Molecular Location: base pairs 48,904,110 to 48,921,576 on chromosome 12 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 12q13.12, which is the long (q) arm of chromosome 12 at position 13.12
  • CFAP250
  • DRC2
  • FAP250
  • NYD-SP28