GNAS, CT (GNAS, GNAS1, Neuroendocrine secretory protein 55, LHAL tetrapeptide, GPIPIRRH peptide)

Size

£696.00

SKU:: 036130
Application:: WB
Purity:: Purified by Protein A affinity chromatography.
Storage Conditions:: -20°C
Supplier:: United States Biological
Host:: Rabbit
Immunogen:: KLH-conjugated synthetic peptide mapping to a fragment of residues within amino acids 216-244aa in the C-terminal region of human GNAS, UniProt Accession #NP_057676.1; O95467
Format:: Supplied as a liquid in PBS, pH 7.2, 0.09% sodium azide.
Extra Details:: 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 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 this gene. 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, ELISA Recommended Dilution: ELISA: 1:1,000 Western Blot: 1:100-500 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. For maximum recovery of product, centrifuge the original vial after thawing and prior to removing the cap.

Shipping Conditions:: Blue Ice