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:
Related Diseases:
References:
1. |
Vaughan KT et al. (1996) Multiple mouse chromosomal loci for dynein-based motility.
|
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.
|
3. |
Olbrich H et al. (2002) Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left-right asymmetry.
|
4. |
Ibañez-Tallon I et al. (2002) Loss of function of axonemal dynein Mdnah5 causes primary ciliary dyskinesia and hydrocephalus.
|
5. |
Tan SY et al. (2007) Heterotaxy and complex structural heart defects in a mutant mouse model of primary ciliary dyskinesia.
|
6. |
Failly M et al. (2009) Mutations in DNAH5 account for only 15% of a non-preselected cohort of patients with primary ciliary dyskinesia.
|
7. |
Knowles MR et al. (2013) Exome sequencing identifies mutations in CCDC114 as a cause of primary ciliary dyskinesia.
|
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.
|
9. |
Ibañez-Tallon I et al. (2003) To beat or not to beat: roles of cilia in development and disease.
|
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.
|
11. |
Orphanet article
Orphanet ID 121137
|
12. |
NCBI article
NCBI 1767
|
13. |
OMIM.ORG article
Omim 603335
|
14. |
Wikipedia article
Wikipedia EN (DNAH5)
|
Update: Aug. 14, 2020