Immunogen
Synthesized peptide derived from human DYH5 AA range: 2445-2495
Specificity
This antibody detects endogenous levels of DYH5 at Human/Mouse
Source
Polyclonal, Rabbit,IgG
Formulation
Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
Dilution rate
IHC-p 1：50-200. IF 1:50-200
Purification process (Immunogen)
The antibody was affinity-purified from rabbit serum by affinity-chromatography using specific immunogen.
Background
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. [provided by RefSeq, Oct 2009],
Function
disease:Defects in DNAH5 are a cause of Kartagener syndrome (KTGS) [MIM:244400]. KTGS is an autosomal recessive disorder characterized by the association of primary ciliary dyskinesia with situs inversus. Clinical features include recurrent respiratory infections, bronchiectasis, infertility, and lateral transposition of the viscera of the thorax and abdomen. The situs inversus is most often total, although it can be partial in some cases (isolated dextrocardia or isolated transposition of abdominal viscera).,disease:Defects in DNAH5 are the cause of primary ciliary dyskinesia type 3 (CILD3) [MIM:608644]. CILD3 is an autosomal recessive disorder characterized by axonemal abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia; reduced fertility is often observed in male patients due to
Gene Name
DNAH5 DNAHC5 HL1 KIAA1603
Fields
>>Amyotrophic lateral sclerosis;>>Huntington disease;>>Pathways of neurodegeneration - multiple diseases
Human protein sequence Database
Q8TE73
Mouse protein sequence database
Q8VHE6
Rat protein sequence database
Cellular localization
Cytoplasm, cytoskeleton, cilium axoneme .
Tissue expression
Expressed in airway epithelial cells (at protein level). Not detected in spermatozoa (at protein level).
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