Gene: CCDC65

Alternate names for this Gene: CFAP250|DRC2|FAP250|NYD-SP28

Gene Summary: 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.

Gene is located in Chromosome: 12

Location in Chromosome : 12q13.12

Description of this Gene: coiled-coil domain containing 65

Type of Gene: protein-coding

rs863223325 in CCDC65 gene and Ciliary Motility Disorders PMID 25802884 2015 Carrier frequencies of eleven mutations in eight genes associated with primary ciliary dyskinesia in the Ashkenazi Jewish population.

PMID 23991085 2013 CCDC65 mutation causes primary ciliary dyskinesia with normal ultrastructure and hyperkinetic cilia.

PMID 24094744 2013 Zebrafish Ciliopathy Screen Plus Human Mutational Analysis Identifies C21orf59 and CCDC65 Defects as Causing Primary Ciliary Dyskinesia.