PGM1 across dismech

PGM1 (phosphoglucomutase 1) is named by 1 disorder entry.

Normal function

ai-gene-review gives PGM1's core molecular function as phosphoglucomutase activity, the reversible interconversion of glucose-1-phosphate and glucose-6-phosphate, acting in glucose metabolic process; and glycogen catabolic process in the cytosol. The upstream review is being updated to add the enzyme's role in supplying glucose-1-phosphate for UDP-glucose and UDP-galactose, which is the glycosylation arm of the disease.

Causative record

The one entry naming PGM1 types it as causative, PGM1-congenital disorder of glycosylation, and records the variants as germline (PGM1-congenital disorder of glycosylation). ClinGen rates the gene-disease relationship definitive. PGM1 sits on two nodes there: Biallelic PGM1 Loss of Function and Z-Disk Destabilization via Loss of PGM1-LDB3 Interaction. The second carries the process sarcomere organization, a structural role in cardiac muscle that is separate from catalysis.

Where the layers agree and disagree

ClinGen classifies PGM1 for 1 disease. The KB and ai-gene-review share 0 GO process terms on PGM1's own nodes: the KB places the glycogen, glycolysis and glycosylation consequences on downstream nodes rather than on the PGM1 node, and the sarcomere role is not among ai-gene-review's core functions.