Gene: DNAH5

Alternate names for this Gene: CILD3|DNAHC5|HL1|KTGNR|PCD

Gene Summary: This gene encodes a dynein protein, which is part of a microtubule-associated motor protein complex consisting of heavy, light, and intermediate chains. This protein is an axonemal heavy chain dynein. It functions as a force-generating protein with ATPase activity, whereby the release of ADP is thought to produce the force-producing power stroke. Mutations in this gene cause primary ciliary dyskinesia type 3, as well as Kartagener syndrome, which are both diseases due to ciliary defects.

Gene is located in Chromosome: 5

Location in Chromosome : 5p15.2

Description of this Gene: dynein axonemal heavy chain 5

Type of Gene: protein-coding

rs138890576 in DNAH5 gene and Abnormal respiratory motile cilium morphology PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.

rs795544 in DNAH5 gene and Astigmatism PMID 23322567 2013 Identification of a candidate gene for astigmatism.

rs1060501460 in DNAH5 gene and CILIARY DYSKINESIA, PRIMARY, 3 PMID 11912187 2002 Loss of function of axonemal dynein Mdnah5 causes primary ciliary dyskinesia and hydrocephalus.

PMID 16627867 2006 DNAH5 mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defects.

PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.

PMID 23477994 2013 Primary ciliary dyskinesia-causing mutations in Amish and Mennonite communities.

PMID 22416021 2012 Effectiveness of sequencing selected exons of DNAH5 and DNAI1 in diagnosis of primary ciliary dyskinesia.

PMID 25186273 2014 Ciliary beat pattern and frequency in genetic variants of primary ciliary dyskinesia.

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

PMID 27637300 2016 Diagnosis of Primary Ciliary Dyskinesia by a Targeted Next-Generation Sequencing Panel: Molecular and Clinical Findings in Italian Patients.

PMID 21270641 2011 Next generation massively parallel sequencing of targeted exomes to identify genetic mutations in primary ciliary dyskinesia: implications for application to clinical testing.

PMID 23261302 2013 Exome sequencing identifies mutations in CCDC114 as a cause of primary ciliary dyskinesia.

PMID 23891469 2013 ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6.

PMID 11788826 2002 Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left-right asymmetry.

PMID 15750039 2005 Mislocalization of DNAH5 and DNAH9 in respiratory cells from patients with primary ciliary dyskinesia.

PMID 26228299 2016 An effective combination of sanger and next generation sequencing in diagnostics of primary ciliary dyskinesia.

PMID 11062149 2000 Homozygosity mapping of a gene locus for primary ciliary dyskinesia on chromosome 5p and identification of the heavy dynein chain DNAH5 as a candidate gene.

PMID 19357118 2009 Mutations in DNAH5 account for only 15% of a non-preselected cohort of patients with primary ciliary dyskinesia.

PMID 19630565 2009 Genetics, medicine, and the Plain people.

PMID 25066065 2014 Cri du chat syndrome and primary ciliary dyskinesia: a common genetic cause on chromosome 5p.

rs6881967 in DNAH5 gene and Chronic Obstructive Airway Disease PMID 26634245 2015 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry.

rs771663107 in DNAH5 gene and Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus PMID 23477994 2013 Primary ciliary dyskinesia-causing mutations in Amish and Mennonite communities.

rs1060501460 in DNAH5 gene and Ciliary Motility Disorders PMID 11788826 2002 Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left-right asymmetry.

PMID 16627867 2006 DNAH5 mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defects.

PMID 26228299 2016 An effective combination of sanger and next generation sequencing in diagnostics of primary ciliary dyskinesia.

PMID 19357118 2009 Mutations in DNAH5 account for only 15% of a non-preselected cohort of patients with primary ciliary dyskinesia.

PMID 23891469 2013 ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6.

PMID 24905662 2015 The prevalence of clinical features associated with primary ciliary dyskinesia in a heterotaxy population: results of a web-based survey.

PMID 25186273 2014 Ciliary beat pattern and frequency in genetic variants of primary ciliary dyskinesia.

PMID 26139845 2015 Whole-Exome Sequencing and Targeted Copy Number Analysis in Primary Ciliary Dyskinesia.

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

PMID 23477994 2013 Primary ciliary dyskinesia-causing mutations in Amish and Mennonite communities.

PMID 22416021 2012 Effectiveness of sequencing selected exons of DNAH5 and DNAI1 in diagnosis of primary ciliary dyskinesia.

PMID 27637300 2016 Diagnosis of Primary Ciliary Dyskinesia by a Targeted Next-Generation Sequencing Panel: Molecular and Clinical Findings in Italian Patients.

PMID 27618201 2016 Aminoglycoside-stimulated readthrough of premature termination codons in selected genes involved in primary ciliary dyskinesia.

PMID 26373788 2015 Ciliary function and motor protein composition of human fallopian tubes.

PMID 21270641 2011 Next generation massively parallel sequencing of targeted exomes to identify genetic mutations in primary ciliary dyskinesia: implications for application to clinical testing.

PMID 23261302 2013 Exome sequencing identifies mutations in CCDC114 as a cause of primary ciliary dyskinesia.

PMID 2389146 1990 Interhemispheric transfer of plasticity in the cerebral cortex.

PMID 2127064 1990 [Study of anti-ischemic action of carnitine chloride and its effects on the effectiveness of antianginal agents].

PMID 22499950 2012 High prevalence of respiratory ciliary dysfunction in congenital heart disease patients with heterotaxy.

PMID 27779714 2016 Whole-exome sequencing identification of novel DNAH5 mutations in a young patient with primary ciliary dyskinesia.

PMID 24150548 2014 A novel mutation of DNAH5 in chronic rhinosinusitis and primary ciliary dyskinesia in a Chinese family.

rs116128702 in DNAH5 gene and Dysmorphic features PMID 19357118 2009 Mutations in DNAH5 account for only 15% of a non-preselected cohort of patients with primary ciliary dyskinesia.

PMID 12615011 2003 Lateralization defects and ciliary dyskinesia: lessons from algae.

PMID 16627867 2006 DNAH5 mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defects.

PMID 24267886 2013 Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism.

PMID 11788826 2002 Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left-right asymmetry.

PMID 23261302 2013 Exome sequencing identifies mutations in CCDC114 as a cause of primary ciliary dyskinesia.

rs339416 in DNAH5 gene and Fasting blood glucose measurement PMID 19060907 2009 Variants in MTNR1B influence fasting glucose levels.

rs6881967 in DNAH5 gene and Forced expiratory volume function PMID 26634245 2015 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry.

rs116128702 in DNAH5 gene and Multiple congenital anomalies PMID 23261302 2013 Exome sequencing identifies mutations in CCDC114 as a cause of primary ciliary dyskinesia.

PMID 24267886 2013 Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism.

PMID 19357118 2009 Mutations in DNAH5 account for only 15% of a non-preselected cohort of patients with primary ciliary dyskinesia.

PMID 11788826 2002 Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left-right asymmetry.

PMID 12615011 2003 Lateralization defects and ciliary dyskinesia: lessons from algae.

PMID 16627867 2006 DNAH5 mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defects.

rs116128702 in DNAH5 gene and Muscle hypotonia PMID 12615011 2003 Lateralization defects and ciliary dyskinesia: lessons from algae.

PMID 11788826 2002 Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left-right asymmetry.

PMID 19357118 2009 Mutations in DNAH5 account for only 15% of a non-preselected cohort of patients with primary ciliary dyskinesia.

PMID 24267886 2013 Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism.

PMID 23261302 2013 Exome sequencing identifies mutations in CCDC114 as a cause of primary ciliary dyskinesia.

PMID 16627867 2006 DNAH5 mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defects.

rs781469274 in DNAH5 gene and Overgrowth PMID 11788826 2002 Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left-right asymmetry.

PMID 23261302 2013 Exome sequencing identifies mutations in CCDC114 as a cause of primary ciliary dyskinesia.

PMID 19357118 2009 Mutations in DNAH5 account for only 15% of a non-preselected cohort of patients with primary ciliary dyskinesia.

PMID 24267886 2013 Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism.

PMID 12615011 2003 Lateralization defects and ciliary dyskinesia: lessons from algae.

PMID 16627867 2006 DNAH5 mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defects.

rs7720298 in DNAH5 gene and Prostate carcinoma PMID 27515689 2016 Meta-analysis of Genome Wide Association Studies Identifies Genetic Markers of Late Toxicity Following Radiotherapy for Prostate Cancer.

rs795544 in DNAH5 gene and Regular astigmatism - corneal PMID 23322567 2013 Identification of a candidate gene for astigmatism.

rs138890576 in DNAH5 gene and Situs inversus totalis PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.