84-2407-33　［取扱停止］TOR1A (DQ2, Dystonia 1, Dystonia 1 Protein, Dystonia 1 torsion, Dyt1, Tor1a, Torsin 1A, Torsin A, Torsin Family 1 Member A, Torsin Family 1, Member A (torsin A)) 100ul　226404

特徴

• A mutation of the DYT1 gene, which codes for TorsinA, has been identified as the cause of one form of autosomal dominantly inherited dystonia.
• Early-onset torsion dystonia is a movement disorder, characterized by twisting muscle contractures, that begins in childhood.
• Symptoms are believed to result from altered neuronal communication in the basal ganglia.
• TorsinA comprises 332 amino acids.
• TorsinA is widely expressed throughout the mouse central nervous system and is detected in the majority of neurons in nearly all regions.
• The proteins display cytoplasmic distribution, although in some types of neurons localization is perinuclear.
• TorsinA often performs chaperone-like functions that assist in the assembly, operation, or dis-assembly of protein complexes.
• The gene which encodes TorsinA has high homology to three additional mammalian genes and a nematode gene and distal similarity to the family of heat-shock proteins and the Clp protease family.
• The gene which encodes TorsinA maps to human chromosome 9q34.
• Applications:Suitable for use in Western Blot, Immunohistochemistry.
• Other applications not tested.
• Recommended Dilution:Western Blot: 1:500-1:2000Immunohistochemistry: 1:50-1:200Optimal dilutions to be determined by the researcher.
• Storage and Stability:May be stored at 4°C for short-term only.
• Aliquot to avoid repeated freezing and thawing.
• Store at -20°C.
• Aliquots are stable for 12 months after receipt.
• For maximum recovery of product, centrifuge the original vial after thawing and prior to removing the cap.