Strumpellin Antibody
- SPECIFICATION
- CITATIONS
- PROTOCOLS
- BACKGROUND
Application
| WB, E |
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Primary Accession | Q12768 |
Other Accession | NP_055661, 120952851 |
Reactivity | Human, Mouse, Rat |
Host | Rabbit |
Clonality | Polyclonal |
Isotype | IgG |
Calculated MW | 134286 Da |
Application Notes | Strumpellin antibody can be used for detection of Strumpellin by Western blot at 1 µg/mL. |
Gene ID | 9897 |
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Target/Specificity | KIAA0196; Multiple isoforms of Strumpellin are known to exist. |
Reconstitution & Storage | Strumpellin antibody can be stored at 4℃ for three months and -20℃, stable for up to one year. As with all antibodies care should be taken to avoid repeated freeze thaw cycles. Antibodies should not be exposed to prolonged high temperatures. |
Precautions | Strumpellin Antibody is for research use only and not for use in diagnostic or therapeutic procedures. |
Name | WASHC5 (HGNC:28984) |
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Synonyms | KIAA0196 |
Function | Acts as a component of the WASH core complex that functions as a nucleation-promoting factor (NPF) at the surface of endosomes, where it recruits and activates the Arp2/3 complex to induce actin polymerization, playing a key role in the fission of tubules that serve as transport intermediates during endosome sorting (PubMed:19922875, PubMed:20498093). May be involved in axonal outgrowth. Involved in cellular localization of ADRB2 (PubMed:23085491). Involved in cellular trafficking of BLOC-1 complex cargos such as ATP7A and VAMP7 (PubMed:23676666). |
Cellular Location | Cytoplasm, cytosol. Endoplasmic reticulum. Early endosome Note=Colocalizes with SYP/synaptophysin in the external molecular layer of the dentate gyrus and in motoneurons of the ventral horn of spinal cord. |
Tissue Location | Expressed ubiquitously. |
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Provided below are standard protocols that you may find useful for product applications.
Background
Strumpellin Antibody: Strumpellin is a ubiquitously expressed, multi-transmembrane and spectrin-repeat-containing protein. It is named for Strumpell disease; a progressive upper-motor neurodegenerative disease termed hereditary spastic paraplegia (HSP). The Strumpellin gene maps to the eighth HSP locus (SPG8) on chromosome 8p24.13. Three families liked to this locus have mutations in the Strumpellin gene; rescue studies of zebrafish with decreased Strumpellin expression with Strumpellin mRNA containing these mutations showed impaired normal function of this protein. Recent studies suggest that Strumpellin may also be involved in protein aggregation diseases.
References
Valmanis PN, Meijer IA, Reynolds A, et al. Mutations in the KIAA0196 gene at the SPG8 locus cause hereditary spastic paraplegia. Am. J. Hum. Gen. 2007; 80:152-61.
Clemen CS, Tangavelou K, Strucksberg KH, et al. Strumpellin is a novel valosin-containing protein binding partner linking hereditary spastic paraplegia to protein aggregation diseases. Brain 2010; 133:2920-41
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