Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Moldiag Diseases Genes Support Contact

Dynein heavy chain 5

The DNAH5 gene encodes a motor protein which is involved in ciliary transport. Mutations cause autosomal recessive ciliary dyskinesia 3 with or without situs inversus.

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA
Research Method Multiplex Ligation-Dependent Probe Amplification
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Primary ciliary dyskinesia 3 with or without situs inversus
DNAH5

References:

1.

Vaughan KT et al. (1996) Multiple mouse chromosomal loci for dynein-based motility.

external link
2.

Omran H et al. (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.

external link
3.

Olbrich H et al. (2002) Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left-right asymmetry.

external link
4.

Ibañez-Tallon I et al. (2002) Loss of function of axonemal dynein Mdnah5 causes primary ciliary dyskinesia and hydrocephalus.

external link
5.

Tan SY et al. (2007) Heterotaxy and complex structural heart defects in a mutant mouse model of primary ciliary dyskinesia.

external link
6.

Failly M et al. (2009) Mutations in DNAH5 account for only 15% of a non-preselected cohort of patients with primary ciliary dyskinesia.

external link
7.

Knowles MR et al. (2013) Exome sequencing identifies mutations in CCDC114 as a cause of primary ciliary dyskinesia.

external link
8.

Chapelin C et al. (1997) Isolation of several human axonemal dynein heavy chain genes: genomic structure of the catalytic site, phylogenetic analysis and chromosomal assignment.

external link
9.

Ibañez-Tallon I et al. (2003) To beat or not to beat: roles of cilia in development and disease.

external link
10.

Ibañez-Tallon I et al. (2004) Dysfunction of axonemal dynein heavy chain Mdnah5 inhibits ependymal flow and reveals a novel mechanism for hydrocephalus formation.

external link
11.

Orphanet article

Orphanet ID 121137 external link
12.

NCBI article

NCBI 1767 external link
13.

OMIM.ORG article

Omim 603335 external link
14.

Wikipedia article

Wikipedia EN (DNAH5) external link
Update: Aug. 14, 2020
Copyright © 2005-2020 by Center for Nephrology and Metabolic Disorders, Dr. Mato Nagel, MD
Albert-Schweitzer-Ring 32, D-02943 Weißwasser, Germany, Tel.: +49-3576-287922, Fax: +49-3576-287944
Sitemap | Webmail | Disclaimer | Privacy Issues