Gene Symbol | CCDC65 |
Entrez Gene ID | 85478 |
Full Name | coiled-coil domain containing 65 |
Synonyms | CFAP250,DRC2,FAP250,NYD-SP28 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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. [provided by RefSeq, Nov 2013]. |
Disorder MIM: | |
Disorder Html: | Ciliary dyskinesia, primary, 27, 615504 (3) |