Gene Symbol | DNAAF2 |
Entrez Gene ID | 55172 |
Full Name | dynein axonemal assembly factor 2 |
Synonyms | C14orf104,CILD10,KTU,PF13 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes a highly conserved protein involved in the preassembly of dynein arm complexes which power cilia. These complexes are found in some cilia and are assembled in the cytoplasm prior to transport for cilia formation. Mutations in this gene have been associated with primary ciliary dyskinesia. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2009]. |
Disorder MIM: | |
Disorder Html: | Ciliary dyskinesia, primary, 10, 612518 (3) |