Gene Symbol | CCDC151 |
Entrez Gene ID | 115948 |
Full Name | coiled-coil domain containing 151 |
Synonyms | CILD30 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes a protein containing coiled-coil domains. The encoded protein functions in outer dynein arm assembly and is required for motile cilia function. Mutations in this gene result in primary ciliary dyskinesia. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2014]. |
Disorder MIM: | |
Disorder Html: | Ciliary dyskinesia, primary, 30, 616037 (3) |