84-4962-33　GNAS (Guanine Nucleotide-Binding Protein G(s) Subunit Alpha Isoforms Short, GNAS Complex Focus) 100ul　481969

特徴

• Mutations in GNAS 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.This gene has a highly complex imprinted expression pattern.
• It encodes maternally, paternally, and biallelically expressed proteins which are derived from alternatively spliced transcripts with alternate 5' exons.
• Each of the upstream exons is within a differentially methylated region, commonly found in imprinted genes.
• However, the close proximity (14kb) of two oppositely expressed promoter regions is unusual.
• In addition, one of the alternate 5' exons introduces a frameshift relative to the other transcripts, resulting in one isoform which is structurally unrelated to the others.
• An antisense transcript exists, and may regulate imprinting in this region.
• Mutations in this gene result in pseudohypoparathyroidism type 1a (PHP1a), which has an atypical autosomal dominant inheritance pattern requiring maternal transmission for full penetrance.
• There are RefSeqs representing four transcript variants of this gene.
• Other transcript variants including four additional exons have been described; however, their full length sequences have not been determined.This locus 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 contains 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 exists, and this antisense transcript and one of the transcripts are paternally expressed, produce 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 have been found for this gene, but the full-length nature and/or biological validity of some variants have not been determined.
• 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.
• Other applications not tested.
• Recommended Dilution:Optimal 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.