Spartin; Spastic paraplegia 20 protein; Trans-activated by hepatitis C virus core protein 1; SPG20; KIAA0610; TAHCCP1

For Research Use Only. Not for use in diagnostic procedures.

Synthetic peptide was lyophilized with 100% acetonitrile and is supplied as a powder. Reconstitute with 0.1 ml DI water for a final concentration of 1 mg/ml.

Maintain refrigerated at 2-8 degree C for up to 6 months. For long term storage store at -20 degree C.

Small volumes of SPG20 blocking peptide vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.

May be implicated in endosomal trafficking, or microtubule dynamics, or both.

72,833 Da

spastic paraplegia 20 (Troyer syndrome)

spartin

Spartin

KIAA0610; TAHCCP1??[Similar Products]

SPG20_HUMAN

This gene encodes a protein containing a MIT (Microtubule Interacting and Trafficking molecule) domain, and is implicated in regulating endosomal trafficking and mitochondria function. The protein localizes to mitochondria and partially co-localizes with microtubules. Stimulation with epidermal growth factor (EGF) results in protein translocation to the plasma membrane, and the protein functions in the degradation and intracellular trafficking of EGF receptor. Multiple alternatively spliced variants, encoding the same protein, have been identified. Mutations associated with this gene cause autosomal recessive spastic paraplegia 20 (Troyer syndrome). [provided by RefSeq, Nov 2008]

SPG20: May be implicated in endosomal trafficking, or microtubule dynamics, or both. Defects in SPG20 are the cause of spastic paraplegia autosomal recessive type 20 (SPG20); also known as Troyer syndrome (TRS). 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. SPG20 is characterized by dysarthria, distal amyotrophy, mild developmental delay and short stature.

Protein type: Unknown function

Chromosomal Location of Human Ortholog: 13q13.3

Cellular Component: cytoplasm; midbody; mitochondrial outer membrane; plasma membrane

Molecular Function: protein binding; ubiquitin protein ligase binding

Biological Process: abscission; cell division; regulation of mitochondrial membrane potential

Disease: Spastic Paraplegia 20, Autosomal Recessive

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