Anti -SPG20 (Spastic Paraplegia 20 Protein, Trans-activated By Hepatitis C Virus Core Protein 1, Spartin, TAHCCP1, KIAA0610, Troyer syndrome)

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

Chromosome: 13; NC_000013.10 (36875775..36944317, complement). Location: 13q13.3

Polyclonal

IgG

Goat

Recognizes SPG20. Species sequence homology: human.

Affinity Purified
Purified by peptide affinity chromatography.

Supplied as a liquid in Tris saline, pH 7.3, 0.5% BSA, 0.02% sodium azide.

May be stored at 4 degree C for short-term only. Aliquot to avoid repeated freezing and thawing. Store at -20 degree C. Aliquots are stable for at least 12 months. For maximum recovery of product, centrifuge the original vial after thawing and prior to removing the cap.

Small volumes of anti-SPG20 antibody 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.

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).

Antibodies; Abs to Disease Markers

ELISA (EL/EIA)

Suitable for use in ELISA.
Dilution: Peptide ELISA Titer: 1:8000

72,833 Da[Similar Products]

spastic paraplegia 20 (Troyer syndrome)

spartin; trans-activated by hepatitis C virus core protein 1

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: mitochondrial outer membrane; cytoplasm; plasma membrane; lipid particle; synapse; midbody

Molecular Function: protein binding; ubiquitin protein ligase binding

Biological Process: regulation of mitochondrial membrane potential; negative regulation of collateral sprouting in the absence of injury; cell division; neuromuscular process; abscission; negative regulation of BMP signaling pathway

Disease: Spastic Paraplegia 20, Autosomal Recessive

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