84-2398-08　［取扱停止］SMN2 (Survival motor neuron Protein, Component of gems 1, Gemin-1, SMN1, SMN, SMNT, SMN2, SMNC) 100ul　225934

特徴

• Spinal muscular atrophy (SMA) is an autosomal recessive neurodegenerative disease characterized by loss of motor neurons in the spinal cord.
• SMA is caused by deletion or loss-of-function mutations of SMN (survival of motor neuron) gene.
• SMN, also known as Gemin1, SMN1, SMNT and BCD541, exists as four isoforms produced by alternative splicing.
• SMN is oligomeric and forms a complex with Gemin2 (formerly SIP1), Gemin3 (a DEAD box RNA helicase), Gemin4, Gemin5 and Gemin6, as well as several spliceosomal snRNP proteins.
• The SMN complex plays an essential role in splicesomal snRNP assembly in the cytoplasm and is required for pre-mRNA splicing of the nucleus.
• The SMN complex is found in both the cytoplasm and the nucleus.
• The nuclear form is concentrated in subnuclear bodies called gems (gemini of the coiled bodies).
• Cytoplasmic SMN interacts with spliceosomal Sm proteins and facilitates their assembly onto U snRNAs, and nuclear SMN mediates recycling of pre-mRNA splicing factors.
• Nearly identical telomeric and centromeric forms of SMN encode the same protein; however, only mutations in the telomeric form are associated with the disease-state SMA.
• SMN is expresed in a wide variety of tissues including brain, kidney, liver, spinal cord and moderately in skeletal and cardiac muscle.
• 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.