SAB3500640
Anti-KIAA0196 antibody produced in rabbit
affinity isolated antibody
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About This Item
NACRES:
NA.41
UNSPSC Code:
12352203
Conjugate:
unconjugated
Clone:
polyclonal
Application:
ELISA, WB
Citations:
5
biological source
rabbit
conjugate
unconjugated
antibody form
affinity isolated antibody
antibody product type
primary antibodies
clone
polyclonal
mol wt
127 kDa
species reactivity
mouse, rat, human
concentration
1 mg/mL
technique(s)
ELISA: suitable, western blot: suitable
NCBI accession no.
UniProt accession no.
shipped in
wet ice
storage temp.
−20°C
target post-translational modification
unmodified
Gene Information
human ... KIAA0196(9897)
Related Categories
General description
The gene KIAA0196 (strumpellin) is mapped to human chromosome 8q24. It is a widely expressed gene and the protein localizes in the cytoplasm and endoplasmic reticulum.
Immunogen
Antibody was raised against a 19 amino acid peptide near the carboxy terminus of human Strumpellin.
Biochem/physiol Actions
KIAA0196 (strumpellin) is involved in the WASH (WASP and Scar homologue) complex, an actin-regulating complex. It works as an interlink between actin regulation and endosomal membrane dynamics. Mutations in KIAA0196 are associated with spastic paraplegia and RSS (Ritscher-Schinzel syndrome).
Features and Benefits
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Physical form
Supplied at 1 mg/mL in PBS with 0.02% sodium azide.
Other Notes
The action of this antibody can be blocked using blocking peptide SBP3500640.
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Storage Class
10 - Combustible liquids
flash_point_f
Not applicable
flash_point_c
Not applicable
Regulatory Information
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Exome sequencing expands the mutational spectrum of SPG8 in a family with spasticity responsive to L-DOPA treatment.
Conceição Bettencourt et al.
Journal of neurology, 260(9), 2414-2416 (2013-07-25)
A novel KIAA0196 (SPG8) mutation in a Chinese family with spastic paraplegia.
Xianling Wang et al.
Chinese medical journal, 127(10), 1987-1989 (2014-05-16)
Alison M Elliott et al.
Journal of medical genetics, 50(12), 819-822 (2013-09-26)
Ritscher-Schinzel syndrome (RSS) is a clinically heterogeneous disorder characterised by distinctive craniofacial features in addition to cerebellar and cardiac anomalies. It has been described in different populations and is presumed to follow autosomal recessive inheritance. In an effort to identify
Caroline Freeman et al.
Biochimica et biophysica acta, 1832(1), 160-173 (2012-10-23)
Mutations in the gene encoding strumpellin cause autosomal dominant hereditary spastic paraplegia (HSP), in which there is degeneration of corticospinal tract axons. Strumpellin is a component of the WASH complex, an actin-regulating complex that is recruited to endosomes by interactions
Christoph S Clemen et al.
Brain : a journal of neurology, 133(10), 2920-2941 (2010-09-14)
Mutations of the human valosin-containing protein gene cause autosomal-dominant inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia. We identified strumpellin as a novel valosin-containing protein binding partner. Strumpellin mutations have been shown to cause hereditary spastic
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