LP35861-1
GNAS1 gene
Active
Description
The GNAS1 gene (GNAS complex locus) gene is located on chromosome 20q13.3. 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] [NCBI Gene ID:2778] Source: National Center for Biotechnology Information (NCBI) Gene
Reference Information
| Type | Source | Reference |
|---|---|---|
| Webcontent | Online Mendelian Inheritance in Man®Copyright OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University. | Link to OMIM |
Basic Part Properties
- Part Display Name
- GNAS1 gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2005-07-11
- Construct for LOINC Short Name
- GNAS1 gene
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Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | GAS1 基因 Synonyms: AHO; |
| et-EE | Estonian (Estonia) | GNAS1 geen |
| es-ES | Spanish (Spain) | Gen GNAS1 |
| it-IT | Italian (Italy) | GNAS1, gene Synonyms: Gene GNAS1 |
| tr-TR | Turkish (Turkey) | GNAS1 geni |
| ru-RU | Russian (Russian Federation) | GNAS1 ген |
| nl-NL | Dutch (Netherlands) | GNAS1-gen Synonyms: GNAS1 gen |
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