84-5476-49　［取扱停止］GNAS3 100ul　536802

特徴

• This locus GNAS has a highly complex imprinted expression pattern.
• It gives rise to maternally, paternally, and biallelically expressed transcripts that are derived from four alternative promoters and 5' exons.
• Some transcripts contain a differentially methylated region (DMR) at their 5' exons, and this DMR is commonly found in imprinted genes and correlates with transcript expression.
• An antisense transcript is produced from an overlapping locus on the opposite strand.
• One of the transcripts produced from this locus, and the antisense transcript, are paternally expressed noncoding RNAs, and may regulate imprinting in this region.
• In addition, one of the transcripts contains a second overlapping ORF, which encodes a structurally unrelated protein - Alex.
• Alternative splicing of downstream exons is also observed, which results in different forms of the stimulatory G-protein alpha subunit, a key element of the classical signal transduction pathway linking receptor-ligand interactions with the activation of adenylyl cyclase and a variety of cellular reponses.
• Multiple transcript variants encoding different isoforms have been found for GNAS.
• Mutations in this gene result in pseudohypoparathyroidism type 1a, pseudohypoparathyroidism type 1b, Albright hereditary osteodystrophy, pseudopseudohypoparathyroidism, McCune-Albright syndrome, progressive osseus heteroplasia, polyostotic fibrous dysplasia of bone, and some pituitary tumors.
• Applications:Suitable for use in Western Blot and ELISA.
• Other applications not tested.
• Recommended Dilution:Western Blot: 1:500-1:2000ELISA: 1:5000-1:20,000Optimal 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.