Gene: LOC101930593

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

Location in Chromosome :

Description of this Gene:

Type of Gene:

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

rs756430359 in LOC101930593;DNAAF3 gene and Ciliary Motility Disorders PMID 22387996 2012 Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia.