U.S. flag

An official website of the United States government

NCBI Bookshelf. A service of the National Library of Medicine, National Institutes of Health.

Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024.

Cover of GeneReviews®

GeneReviews® [Internet].

Show details
Figure 1. . Schematic of the GNAS complex locus and nearby gene, STX16.

Figure 1.

Schematic of the GNAS complex locus and nearby gene, STX16. GNAS exons 1-13 encode Gsα. See Additional transcripts of the GNAS complex locus (pdf) for more details about GNAS alternative first exons. STX16 is centromeric to the GNAS complex locus and encodes syntaxin-16. Although STX16 is not imprinted, the protein product is a cis-acting imprinting control element that is necessary for establishing and/or maintaining methylation at GNAS exon A/B DMR (also referred to as exon 1A or GNAS A/B:TSS-DMR), thus allowing normal Gsα expression in the proximal renal tubules. Pathogenic deletions are those that occur at the maternally inherited differentially methylated regions; see Rezwan et al [2015] for additional deletions.

From: Disorders of GNAS Inactivation

Copyright © 1993-2024, University of Washington, Seattle. GeneReviews is a registered trademark of the University of Washington, Seattle. All rights reserved.

GeneReviews® chapters are owned by the University of Washington. Permission is hereby granted to reproduce, distribute, and translate copies of content materials for noncommercial research purposes only, provided that (i) credit for source (http://www.genereviews.org/) and copyright (© 1993-2024 University of Washington) are included with each copy; (ii) a link to the original material is provided whenever the material is published elsewhere on the Web; and (iii) reproducers, distributors, and/or translators comply with the GeneReviews® Copyright Notice and Usage Disclaimer. No further modifications are allowed. For clarity, excerpts of GeneReviews chapters for use in lab reports and clinic notes are a permitted use.

For more information, see the GeneReviews® Copyright Notice and Usage Disclaimer.

For questions regarding permissions or whether a specified use is allowed, contact: ude.wu@tssamda.


  • Cite this Page
  • PDF version of this page (666K)
  • Disable Glossary Links

Related information

  • OMIM
    Related OMIM records
  • PMC
    PubMed Central citations
  • PubMed
    Links to PubMed
  • Gene
    Locus Links

Similar articles in PubMed

See reviews...See all...

Recent Activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...