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Dnah5 encodes a dynein protein, which is part of a microtubule-associated motor protein complex consisting of heavy, light, and intermediate chains.
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Human Polyclonal Dnah5 Primary Antibody for IHC, IHC (p) - ABIN4305571
Onoufriadis, Shoemark, Schmidts, Patel, Jimenez, Liu, Thomas, Dixon, Hirst, Rutman, Burgoyne, Williams, Scully, Bolard, Lafitte, Beales, Hogg, Yang, Chung, Emes, OCallaghan, Bouvagnet, Mitchison: Targeted NGS gene panel identifies mutations in RSPH1 causing primary ciliary dyskinesia and a common mechanism for ciliary central pair agenesis due to radial spoke defects. in Human molecular genetics 2014
Show all 3 Pubmed References
to the best of our knowledge, the first reported case of PCD caused by the DNAH5 mutation in a Japanese patient.
These findings demonstrated that new DNAH5 mutations could be used for molecular diagnosis of Kartagener syndrome, providing families with genetic counseling and prenatal diagnosis.
The mutation of p.Glu2610Gly in DNAH5 is novel.
In chronic obstructive pulmonary disease, total lung capacity was associated with a SNP in DNAH5.
A novel mutation in DNAH5 (c. 8030G>A) is identified in a Han Chinese family with chronic rhinosinusitis and primary ciliary dyskinesia.
DNAH5 (rs2277046) is associated with single nucleotide polymorphisms in Korean patients, either non-segmental or segmental type.
DNAH5 is the cause of primary ciliary dyskinesia in two siblings in a nuclear family as identified by whole genome sequencing.
immunofluorescence studies of respiratory epithelial cells with secondary ciliary dyskinesia identified in vitro and in vivo normal axonemal DNAH5 localization
DNAH5 is frequently mutated in patients with primary ciliary dyskinesia exhibiting outer dynein arm defects and mutations cluster in five exons.
Two dynein genes, encoding ODA intermediate chain (DNAI1 (show DNAI1 Antibodies)) and heavy chain (DNAH5), have been seen to be mutated in approximately 30-38% of the families
Dnah6 (show DNAH6 Antibodies) genetically interacts with Dnai1 (show DNAI1 Antibodies) and Dnah5 to cause heterotaxy and primary ciliary dyskinesia.
Loss of function of Mdnah5 causes primary ciliary dyskinesia and hydrocephalus
These findings are consistent with studies indicating that perturbations in dynein activity can contribute to the aberrant accumulations of neurofilaments that accompany ALS/motor neuron disease.
Dnahc5 is required for the specification of left-right asymmetry and suggest that the PCD (show PCBD1 Antibodies)-causing Dnahc5 mutation may also be associated with heterotaxy.
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.
dynein, axonemal, heavy chain 5
, dynein, axonemal, heavy polypeptide 5
, dynein heavy chain 5, axonemal-like
, axonemal beta dynein heavy chain 5
, ciliary dynein heavy chain 5
, dynein heavy chain 5, axonemal
, axonemal dynein heavy chain 5
, dynein, axon, heavy chain 5
, dynein heavy chain
, dynein-like protein 5
, dynein-like prot ein 5