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Official Symbol: | GNAS |
NCBI Gene ID: | 2778 |
Aliases: |
AHO C20orf45 GNAS1 GPSA GSA GSP NESP PITA3 POH SCG6 SgVI |
Official Full Name: | GNAS complex locus |
Species: | human |
Summary: | 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 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 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, Aug 2012]. |
There is no existing raPOOL for your gene, hence a custom raPOOL set up service is required. Please add this to cart and proceed to choose the raPOOL scale required where 2, 5 or 10 nmol is sufficient for 20, 50 or 100 reactions with the recommended use of 100 pmol raPOOL per reaction.
Custom raPOOL Set Up Service
One-time raPOOL set up fee for a new gene. Price: € 529,00 |
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Includes design of new probes against target RNA. Charged on top of raPOOL 2, 5 or 10 price. Charged once only, subsequent order of raPOOL follows raPOOL-2, 5 or 10 pricing. ![]() |
raPOOL 10
10nmol raPOOL Price: € 1.155,00 |
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Amount provided: 10 nmol. Sufficient for 100 reactions. HPLC-purified, freeze-dried. ![]() |
raPOOL 2
2nmol raPOOL Price: € 325,00 |
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Amount provided: 2 nmol. Sufficient for 20 rxns. HPLC-purified, freeze-dried. ![]() |
raPOOL 5
5 nmol raPOOL Price: € 675,00 |
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Amount provided: 5 nmol. Sufficient for 50 reactions. HPLC-purified, freeze-dried. ![]() |