Phosphoglucomutase-1

Phosphoglucomutase-1 (PGM1) is a metabolic enzyme that catalyzes the reversible interconversion of glucose 1-phosphate and glucose 6-phosphate through an intermediate bisphosphate form, participating in both glucose breakdown and synthesis (UniProt: P36871). The enzyme is widely expressed across tissues where carbohydrate metabolism occurs.

Mutations in PGM1 cause congenital disorder of glycosylation type 1T (CDG1T; MIM 614921), a multisystem disorder affecting nervous system development, motor function, and immune competence through impaired glycoprotein biosynthesis (UniProt: P36871). The gene has been catalogued in association with glycosylation defects and their downstream neurological sequelae.

PGM1 is upregulated in Alzheimer's disease brain tissue relative to age-matched controls, with a mean log2 fold-change of 0.15 across analyzed subcellular fractions in post-mortem samples (Chaparral AD proteomics). This modest elevation may reflect metabolic reprogramming in AD pathology, though the functional significance remains to be determined.