Rabbit Strumpellin Polyclonal Antibody | anti-KIAA0196 antibody

Strumpellin Antibody

Cat. Num. AAA9405690

• Gene Names: KIAA0196; RTSC; SPG8
• Reactivity: Human, Mouse, Rat
• Applications: ELISA, Western Blot
• Purity: Affinity chromatography purified via peptide column
• Synonyms: Strumpellin; Polyclonal Antibody; Strumpellin Antibody; WASH complex subunit strumpellin; anti-KIAA0196 antibody

• Host: Rabbit
• Reactivity: Human, Mouse, Rat
• Clonality: Polyclonal
• Specificity: Multiple isoforms of Strumpellin are known to exist.
• Purity/Purification: Affinity chromatography purified via peptide column
• Form/Format: Supplied in PBS containing 0.02% sodium azide.
• Sequence Length: 1159

• Applicable Applications for anti-KIAA0196 antibody: ELISA (EIA), Western Blot (WB)
• Immunogen Type: Peptide
• Immunogen Description: Raised against a 19 amino acid peptide near the carboxy terminus of human Strumpellin.
• Target Name: Strumpellin
• Preparation and Storage: Can be stored at -20 degree C, stable for 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.

Western Blot (WB)

(Western blot analysis of Strumpellin in human ovary tissue lysate with Strumpellin antibody at 1 ug/mL.)

Related Product Information for anti-KIAA0196 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.

Product Categories/Family for anti-KIAA0196 antibody

Total protein Ab

NCBI and Uniprot Product Information

• NCBI GI #: 120952851
• NCBI GeneID: 9897
• NCBI Accession #: NP_055661
• NCBI GenBank Nucleotide #: NM_014846.3
• 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: Ritscher-schinzel Syndrome; Spastic Paraplegia 8, Autosomal Dominant