Gene: DNAAF3

Alternate names for this Gene: C19orf51|CILD2|DAB1|PCD|PF22

Gene 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.

Gene is located in Chromosome: 19

Location in Chromosome : 19q13.42

Description of this Gene: dynein axonemal assembly factor 3

Type of Gene: protein-coding

rs387907151 in DNAAF3 gene and CILIARY DYSKINESIA, PRIMARY, 2 (disorder) PMID 22387996 2012 Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia.

rs387907152 in DNAAF3 gene and Ciliary Motility Disorders PMID 22387996 2012 Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia.