Gene Symbol | DNAAF3 |
Entrez Gene ID | 352909 |
Full Name | dynein axonemal assembly factor 3 |
Synonyms | C19orf51,CILD2,DAB1,PCD,PF22 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | The protein encoded by this gene is required for the assembly of axonemal inner and outer dynein arms and plays a role in assembling dynein complexes for transport into cilia. Defects in this gene are a cause of primary ciliary dyskinesia type 2 (CILD2). Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012]. |
Disorder MIM: | |
Disorder Html: | Ciliary dyskinesia, primary, 2, 606763 (3) |