PGM1 Human

The PGM1 gene is located on chromosome 1 at the region 1p31.3 . The gene spans over 65 kb and contains 11 exons . The protein encoded by this gene is an isozyme of phosphoglucomutase and belongs to the phosphohexose mutase family . There are several PGM isozymes, which are encoded by different genes and catalyze the transfer of phosphate between the 1 and 6 positions of glucose .

PGM1 is highly polymorphic, with several known mutations and intragenic recombination events that generate multiple protein variants . These variants include the four universally common alleles (1+, 1−, 2+, and 2−) and others that are polymorphic in some populations . Mutations in the PGM1 gene can lead to congenital disorders such as Congenital Disorder of Glycosylation, Type It (CDG1T) and Hyperinsulinemic Hypoglycemia, Familial, 7 .

PGM1 is predominantly expressed in skeletal muscle tissue, but it is also found in other tissues such as the liver and heart . The enzyme’s primary function is to regulate one of the most important metabolic carbohydrate trafficking points by catalyzing the interconversion of G-1-P and G-6-P . This reaction is essential for the proper functioning of glycolysis and gluconeogenesis, which are critical for energy production and glucose homeostasis .

Mutations in the PGM1 gene can lead to various metabolic disorders. For example, CDG1T is a rare genetic disorder that affects glycosylation, a process essential for the proper functioning of many proteins . Patients with CDG1T may present with a wide range of symptoms, including developmental delays, muscle weakness, and liver dysfunction .