| Cat.No. : |
GNAS-5048H |
| Product Overview : |
Human GNAS full-length ORF ( NP_000507.1, 1 a.a. - 394 a.a.) recombinant protein with GST-tag at N-terminal. |
| Description : |
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. [provided by RefSeq |
| Source : |
Wheat Germ |
| Species : |
Human |
| Tag : |
GST |
| Molecular Mass : |
72.1 kDa |
| AA Sequence : |
MGCLGNSKTE DQRNEEKAQR EANKKIEKQL QKDKQVYRAT HRLLLLGAGE SGKSTIVKQM RILHVNGFNG EGGEEDPQAA RSNSDGEKAT KVQDIKNNLK EAIETIVAAM SNLVPPVELA NPENQFRVDY ILSVMNVPDF DFPPEFYEHA KALWEDEGVR ACYERSNEYQ LIDCAQYFLD KIDVIKQADY VPSDQDLLRC RVLTSGIFET KFQVDKVNFH MFDVGGQRDE RRKWIQCFND VTAIIFVVAS SSYNMVIRED NQTNRLQEAL NLFKSIWNNR WLRTISVILF LNKQDLLAEK VLAGKSKIED YFPEFARYTT PEDATPEPGE DPRVTRAKYF IRDEFLRIST ASGDGRHYCY PHFTCAVDTE NIRRVFNDCR DIIQRMHLRQ YELL |
| Applications : |
Enzyme-linked Immunoabsorbent Assay
Western Blot (Recombinant protein)
Antibody Production
Protein Array |
| Notes : |
Best use within three months from the date of receipt of this protein. |
| Storage : |
Store at -80 centigrade. Aliquot to avoid repeated freezing and thawing. |
| Storage Buffer : |
50 mM Tris-HCI, 10 mM reduced Glutathione, pH=8.0 in the elution buffer. |
| Quality Control Testing : |
12.5% SDS-PAGE Stained with Coomassie Blue.
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