Strumpellin Blocking Peptide | KIAA0196 blocking peptide

Strumpellin Peptide

Cat. Num. AAA152492

• Gene Names: KIAA0196; RTSC; SPG8
• Applications: Blocking (BL)
• Synonyms: Strumpellin; Strumpellin Peptide; RTSC; SPG8; WASH complex subunit strumpellin; KIAA0196; KIAA0196 blocking peptide

• Form/Format: Liquid
• Concentration: 200 ug/mL (varies by lot)
• Sequence Length: 1159

• Applicable Applications for KIAA0196 blocking peptide: Blocking (BL)
• Application Notes: Strumpellin peptide is used for blocking the activity of Strumpellin antibody.
• Species: Human
• Buffer: PBS pH 7.2 (10 mM NaH2PO4, 10 mM Na2HPO4, 130 mM NaCl) containing 0.1% bovine serum albumin and 0.02% sodium azide
• Location: 19 amino acids near the carboxy terminus of human Strumpellin.
• Preparation and Storage: Store Strumpellin peptide at -20 degree C, stable for one year.

NCBI and Uniprot Product Information

• NCBI GI #: 120952851
• NCBI GeneID: 9897
• NCBI Accession #: NP_055661
• NCBI GenBank Nucleotide #: NM_014846.3
• UniProt Accession #: Q12768; Q3KQX5; Q8TBQ2; A8K4R7
• Molecular Weight: 134,286 Da
• NCBI Official Full Name: WASH complex subunit strumpellin
• NCBI Official Synonym Full Names: KIAA0196
• NCBI Official Symbol: KIAA0196
• NCBI Official Synonym Symbols: RTSC; SPG8
• NCBI Protein Information: WASH complex subunit strumpellin
• UniProt Protein Name: WASH complex subunit strumpellin
• Protein Family: WASH complex
• UniProt Gene Name: KIAA0196
• UniProt Entry Name: STRUM_HUMAN

NCBI Description

This gene 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. [provided by RefSeq, Aug 2009]

Uniprot Description

KIAA0196: Component of the WASH complex, a complex present at the surface of endosomes that recruits and activates the Arp2/3 complex to induce actin polymerization. The WASH complex plays a key role in the fission of tubules that serve as transport intermediates during endosome sorting. Defects in KIAA0196 are the cause of spastic paraplegia autosomal dominant type 8 (SPG8). Spastic paraplegia is a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Spastic paraplegia is a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. Belongs to the strumpellin family.

Chromosomal Location of Human Ortholog: 8q24.13

Cellular Component: endoplasmic reticulum; early endosome; cytosol

Molecular Function: protein binding

Biological Process: protein transport; endosome transport

Disease: Spastic Paraplegia 8, Autosomal Dominant; Ritscher-schinzel Syndrome