Genomic coordinate (human 12:21,523,577 GYS2).
Cytoband (human 12p12.1 GYS2).
Intraband %= 9.9%
Polymorphs = 330 GYS2
Here I present: “Type-O Glycogen Storage Disease“, Victor McKusick, Mendelian Inheritance in Man”, 1966. (GYS2)
INTRODUCTION.
The GYS2 gene provides the genetic instructions for producing an enzyme called liver glycogen synthase. This enzyme plays a central, rate-limiting role in storing carbohydrates by converting glucose into glycogen within liver cells.
Normal Function.
Enzyme Production: It codes for glycogen synthase 2, which functions almost exclusively in the cytosol of liver cells (hepatocytes).
Glycogen Synthesis: The enzyme takes excess glucose derived from food and links the molecules together to form glycogen, the primary storage form of glucose.
Energy Regulation: This stored glycogen acts as a rapid energy reserve. The liver breaks it down between meals to maintain stable, normal blood sugar levels.
Genetic Structure & Mapping
Chromosomal Location: The gene is mapped to the short (p) arm of chromosome 12 at position 12p12.1
Gene Composition: It consists of 16 exons spanning more than 30 kilobases (kb) of genomic DNA.
Tissue Specificity: It is distinct from the GYS1 gene, which handles glycogen synthesis in skeletal and cardiac muscles.
