Gene Symbol | DNAAF1 |
Entrez Gene ID | 123872 |
Full Name | dynein axonemal assembly factor 1 |
Synonyms | CILD13,LRRC50,ODA7,swt |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | The protein encoded by this gene is cilium-specific and is required for the stability of the ciliary architecture. It is involved in the regulation of microtubule-based cilia and actin-based brush border microvilli. Mutations in this gene are associated with primary ciliary dyskinesia-13. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]. |
Disorder MIM: | |
Disorder Html: | Ciliary dyskinesia, primary, 13, 613193 (3) |