Entrez gene ID | | 55172 |
Official gene symbol | | DNAAF2 |
Full name | | chromosome 14 open reading frame 104 |
Aliases | | ,C14orf104,CILD10,KTU,PF13, |
Gene 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. |
Location | | Chromosome: 14 Locus: 14q21.3 |
Gene position | | 50101948 - 50091892 Map Viewer |
Gene orientation | | minus |
Gene size | | 10057 bp |
Gene sequence |
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OMIM ID | | 612517 |