产品名称
RSH4A Rabbit Polyclonal Antibody
存储缓冲液
Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% New type preservative N.
Human Gene Link
https://www.uniprot.org/uniprot/345895
Human Swissprot No.
Q5TD94
Human Swissprot Link
https://www.uniprot.org/uniprotkb/Q5TD94/entry
Mouse Gene Link
https://www.uniprot.org/uniprot/212892
Mouse Swissprot No.
Q8BYM7
Mouse Swissprot Link
https://www.uniprot.org/uniprotkb/Q8BYM7
免疫原
Synthesized peptide derived from human RSH4A AA range: 287-337
特异性
This antibody detects endogenous levels of RSH4A at Human/Mouse
宿主
Polyclonal, Rabbit,IgG
背景介绍
This gene encodes a protein that appears to be a component the radial spoke head, as determined by homology to similar proteins in the biflagellate alga Chlamydomonas reinhardtii and other ciliates. Radial spokes, which are regularly spaced along cilia, sperm, and flagella axonemes, consist of a thin 'stalk' and a bulbous 'head' that form a signal transduction scaffold between the central pair of microtubules and dynein. Mutations in this gene cause primary ciliary dyskinesia 1, a disease arising from dysmotility of motile cilia and sperm. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009],
组织表达
Expressed in trachea, lungs, and testes (PubMed:23993197). Very strong expression is detected in nasal brushings (PubMed:19200523).
细胞定位
Cytoplasm, cytoskeleton, cilium axoneme . Cell projection, cilium . Radial spoke. .
功能
disease:Defects in RSPH4A are the cause of primary ciliary dyskinesia 11 (CILD11) [MIM:612649]. CILD 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 abnormalities of sperm tails. Half of the patients exhibit situs inversus, due to dysfunction of monocilia at the embryonic node and randomization of left-right body asymmetry. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome.,function:Probable component of the axonemal radial spoke head. Radial spokes are regularly spaced along cilia, sperm and flagella axonemes. They consist of a thin stalk which is attached to a subfiber of the outer doublet microtubule, and a bulbous head which is attached to the stalk and appears to interact with the projections from the central pair of microtubules.,similarity:Belongs to the flagellar radial spoke RSP4/6 family.,subcellular location:Radial spoke.,
纯化
The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
