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Strumpellin (STRUM)

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SPG8; Spastic Paraplegia 8; WASH complex subunit strumpellin

Strumpellin (STRUM)
CCC M906
HGNC 28984
MGI 2146110
PubMed 20833645
RGD 1598342
UniProt Q12768
SPG8 encodes a 134 kDa protein named strumpellin that is predicted to have multiple transmembrane domains and a spectrin-repeat-containing domain. This ubiquitously expressed gene has its highest expression in skeletal muscle.
The protein is named for Strumpell disease; a form of hereditary spastic paraplegia (HSP). Spastic paraplegias are a diverse group of disorders in which the autosomal dominant forms are characterized by progressive, lower extremity spasticity caused by axonal degeneration in the terminal portions of the longest descending and ascending corticospinal tracts. More than 30 loci (SPG1-33) have been implicated in hereditary spastic paraplegia diseases.The deduced 1,159-amino acid protein contains putative transmembrane domains.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Strumpellin (STRUM) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Strumpellin (STRUM) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Strumpellin (STRUM) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Strumpellin (STRUM) CLIA Kit Customized Service Offer
n/a ELISA Kit for Strumpellin (STRUM) ELISA Kit Customized Service Offer

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Strumpellin (STRUM) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Strumpellin (STRUM) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Strumpellin (STRUM) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Strumpellin (STRUM) CLIA Kit Customized Service Offer
n/a ELISA Kit for Strumpellin (STRUM) ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Strumpellin (STRUM) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Strumpellin (STRUM) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Strumpellin (STRUM) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Strumpellin (STRUM) CLIA Kit Customized Service Offer
n/a ELISA Kit for Strumpellin (STRUM) ELISA Kit Customized Service Offer
  1. "Prediction of the coding sequences of unidentified human genes. V. The coding sequences of 40 new genes (KIAA0161-KIAA0200) deduced by analysis of cDNA clones from human cell line KG-1."DNA Res. 3:17-24(1996) [PubMed] [Europe PMC] [Abstract]
  2. "Complete sequencing and characterization of 21,243 full-length human cDNAs." Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
  3. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
  4. "Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle."Mol. Cell 31:438-448(2008) [PubMed] [Europe PMC] [Abstract]
  5. "The Arp2/3 activator WASH controls the fission of endosomes through a large multiprotein complex."Dev. Cell 17:712-723(2009) [PubMed] [Europe PMC] [Abstract]
  6. "Strumpellin is a novel valosin-containing protein binding partner linking hereditary spastic paraplegia to protein aggregation diseases."Brain 133:2920-2941(2010) [PubMed] [Europe PMC] [Abstract]
  7. "WASH and WAVE actin regulators of the Wiskott-Aldrich syndrome protein (WASP) family are controlled by analogous structurally related complexes."Proc. Natl. Acad. Sci. U.S.A. 107:10442-10447(2010) [PubMed] [Europe PMC] [Abstract]
  8. "Initial characterization of the human central proteome."BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
  9. "The hereditary spastic paraplegia protein strumpellin: characterisation in neurons and of the effect of disease mutations on WASH complex assembly and function."Biochim. Biophys. Acta 1832:160-173(2013) [PubMed] [Europe PMC] [Abstract]
  10. "A novel mutation in KIAA0196: identification of a gene involved in Ritscher-Schinzel/3C syndrome in a First Nations cohort."J. Med. Genet. 50:819-822(2013) [PubMed] [Europe PMC] [Abstract]
  11. "The WASH complex, an endosomal Arp2/3 activator, interacts with the Hermansky-Pudlak syndrome complex BLOC-1 and its cargo phosphatidylinositol-4-kinase type IIalpha."Mol. Biol. Cell 24:2269-2284(2013) [PubMed] [Europe PMC] [Abstract]
  12. "Mutations in the KIAA0196 gene at the SPG8 locus cause hereditary spastic paraplegia."Am. J. Hum. Genet. 80:152-161(2007) [PubMed] [Europe PMC] [Abstract]
  13. "Exome sequencing expands the mutational spectrum of SPG8 in a family with spasticity responsive to L-DOPA treatment."J. Neurol. 260:2414-2416(2013) [PubMed] [Europe PMC] [Abstract]
  14. "Pure adult-onset Spastic Paraplegia caused by a novel mutation in the KIAA0196 (SPG8) gene."J. Neurol. 260:1765-1769(2013) [PubMed] [Europe PMC] [Abstract]
  15. "A novel strumpellin mutation and potential pitfalls in the molecular diagnosis of hereditary spastic paraplegia type SPG8."J. Neurol. Sci. 347:372-374(2014) [PubMed] [Europe PMC] [Abstract]