Gene: DNAAF1

Alternate names for this Gene: CILD13|DAU1|LRRC50|ODA7|swt

Gene 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.

Gene is located in Chromosome: 16

Location in Chromosome : 16q24.1

Description of this Gene: dynein axonemal assembly factor 1

Type of Gene: protein-coding

rs267607227 in DNAAF1 gene and CILIARY DYSKINESIA, PRIMARY, 13 PMID 25186273 2014 Ciliary beat pattern and frequency in genetic variants of primary ciliary dyskinesia.

PMID 19944405 2009 Loss-of-function mutations in the human ortholog of Chlamydomonas reinhardtii ODA7 disrupt dynein arm assembly and cause primary ciliary dyskinesia.

PMID 19944400 2009 Deletions and point mutations of LRRC50 cause primary ciliary dyskinesia due to dynein arm defects.

rs267607227 in DNAAF1 gene and Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus PMID 19944405 2009 Loss-of-function mutations in the human ortholog of Chlamydomonas reinhardtii ODA7 disrupt dynein arm assembly and cause primary ciliary dyskinesia.

PMID 19944400 2009 Deletions and point mutations of LRRC50 cause primary ciliary dyskinesia due to dynein arm defects.

rs139519641 in DNAAF1 gene and Ciliary Motility Disorders PMID 19944405 2009 Loss-of-function mutations in the human ortholog of Chlamydomonas reinhardtii ODA7 disrupt dynein arm assembly and cause primary ciliary dyskinesia.

PMID 19944400 2009 Deletions and point mutations of LRRC50 cause primary ciliary dyskinesia due to dynein arm defects.

rs16962897 in DNAAF1 gene and Hypertensive disease PMID 27802415 2017 Genome-Wide and Gene-Based Meta-Analyses Identify Novel Loci Influencing Blood Pressure Response to Hydrochlorothiazide.