Gene: DNAAF2

Alternate names for this Gene: 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.

Gene is located in Chromosome: 14

Location in Chromosome : 14q21.3

Description of this Gene: dynein axonemal assembly factor 2

Type of Gene: protein-coding

rs113170157 in DNAAF2 gene and Blood Protein Measurement PMID 30072576 2018 Co-regulatory networks of human serum proteins link genetics to disease.

rs137853191 in DNAAF2 gene and Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus PMID 19052621 2008 Ktu/PF13 is required for cytoplasmic pre-assembly of axonemal dyneins.

PMID 24498942 2014 The role of molecular genetic analysis in the diagnosis of primary ciliary dyskinesia.

rs727504815 in DNAAF2 gene and Ciliary Motility Disorders PMID 19052621 2008 Ktu/PF13 is required for cytoplasmic pre-assembly of axonemal dyneins.