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

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