| UniProt Protein Function: | DNAAF3: Required for the assembly of axonemal inner and outer dynein arms. Involved in preassembly of dyneins into complexes before their transport into cilia. Defects in DNAAF3 are the cause of primary ciliary dyskinesia type 2 (CILD2). CILD is an autosomal recessive disorder characterized by axonemal abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia; reduced fertility is often observed in male patients due to abnormalities of sperm tails. Half of the patients exhibit situs inversus, due to dysfunction of monocilia at the embryonic node and randomization of left-right body asymmetry. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome. Belongs to the DNAAF3 family. 4 isoforms of the human protein are produced by alternative splicing.Chromosomal Location of Human Ortholog: 19q13.4Disease: Ciliary Dyskinesia, Primary, 2 |
| UniProt Protein Details: | |
| NCBI 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] |
| UniProt Code: | Q8N9W5 |
| NCBI GenInfo Identifier: | 73476319 |
| NCBI Gene ID: | 352909 |
| NCBI Accession: | NP_849159.2 |
| UniProt Secondary Accession: | Q8N9W5,Q6P4F6, Q8N9W0, Q96AR2, A8MUY0, E3W9A1, E9PAX5 |
| UniProt Related Accession: | Q8N9W5 |
| Molecular Weight: | 53,749 Da |
| NCBI Full Name: | dynein assembly factor 3, axonemal isoform 2 |
| NCBI Synonym Full Names: | dynein axonemal assembly factor 3 |
| NCBI Official Symbol: | DNAAF3 |
| NCBI Official Synonym Symbols: | PCD; DAB1; PF22; CILD2; C19orf51 |
| NCBI Protein Information: | dynein assembly factor 3, axonemal |
| UniProt Protein Name: | Dynein assembly factor 3, axonemal |
| UniProt Synonym Protein Names: | |
| Protein Family: | Dynein assembly factor |
| UniProt Gene Name: | DNAAF3 |
| UniProt Entry Name: | DAAF3_HUMAN |
