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A locus on chromosome 20q13.3 that has a highly complex imprinted expression pattern, giving rise to maternally, paternally and biallelically expressed transcripts derived from four alternative promoters and 5' exons. Some transcripts have a differentially methylated region (DMR) at their 5' exons. This DMR is commonly found in imprinted genes and correlates with transcript expression; one transcript produced from this locus and the antisense transcript are paternally expressed, noncoding RNAs, which may regulate regional imprinting. Alternative splicing of downstream exons results in different forms of the stimulatory G-protein alpha subunit, a key component of the classical signal-transduction pathway linking receptor-ligand interactions to adenylyl cyclase activation and various cellular responses.

Molecular pathology
GNAS mutations have been linked to pseudohypoparathyroidism types 1a and 1b, Albright hereditary osteodystrophy, pseudopseudohypoparathyroidism, McCune-Albright syndrome, progressive osseus heteroplasia, polyostotic fibrous dysplasia of bone and pituitary tumours.
Segen's Medical Dictionary. © 2012 Farlex, Inc. All rights reserved.


Gerontological Society of America.
Medical Dictionary, © 2009 Farlex and Partners
References in periodicals archive ?
The GSM Association has developed a new, more secure algorithm but it is hard to deploy in older networks.
PathFinder refers to the managed service, based on carrier ENUM, being deployed by the GSM Association and NeuStar.
The GSM Association estimated that by the end of 2001, up to 250bn messages would have been sent this year.
These include enhanced graphics, music, video, games, ring tones, and screen savers, according to GSM Association CEO Rob Conway.
GSM Association, a trade group of mobile network operators, earlier said the final 5G standards would be set by 2019, with commercial rollout seen to pick up the following year.
Beepsend is certified by GSM Association with global reach focusing on SMS solutions.
The new standard, Recommendation ITU-T L.1330 "Energy efficiency measurement and metrics for telecommunication network", was developed by ITU-T Study Group 5 in cooperation with the ETSI Technical Committee on Environmental Engineering and in liaison with the 3rd Generation Partnership Project (3GPP) and the GSM Association (GSMA).
ISLAMABAD -- Europe's rapid migration to 4G services and devices helped to stimulate the recovery of the mobile industry, according to a new GSM Association (GSMA) report.
Certified by the GSM Association, Nawras customers can now enjoy amazing clarity on voice calls even in noisy environments, such as near a highway or in a shopping mall.
The nation's three telecom carriers China Mobile Ltd, China Unicom (Hong Kong) Ltd and China Telecom Corp caught the spotlight on the world stage by obtaining double-digit year-on-year revenue growth rates based on their performance in the fourth quarter, 2011, according to the latest world's operator ranking study conducted by Wireless Intelligence, a research branch under the GSM Association.
The Ecology Foundation, in collaboration with the GSM Association (the global mobile phone network body), the Irish charity Concern and Hanley Energy, an Irish energy solutions company, is developing and financing a new renewable energy company for Africa,