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Merck
CN

SAB3500640

Sigma-Aldrich

Anti-KIAA0196 antibody produced in rabbit

affinity isolated antibody

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About This Item

UNSPSC Code:
12352203
NACRES:
NA.41

Key Documents

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biological source

rabbit

Quality Level

100

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.

NP_055661

UniProt accession no.

Q12768

shipped in

wet ice

storage temp.

−20°C

target post-translational modification

unmodified

Gene Information

human ... KIAA0196(9897)

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

Evaluate our antibodies with complete peace of mind. If the antibody does not perform in your application, we will issue a full credit or replacement antibody. Learn more.

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 Code

10 - Combustible liquids

Flash Point(F)

Not applicable

Flash Point(C)

Not applicable

Regulatory Information

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Certificates of Analysis (COA)

Lot/Batch Number
6497-1102

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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)
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
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)
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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