Phosphoglucomutase 2-like 1 mRNA (PGM2L1 mRNA)

Phosphoglucomutase 2-like 1 (PGM2L1) mRNA is the transcript encoding the enzyme responsible for the synthesis of glucose 1,6-bisphosphate (G16BP) in the human brain. G16BP serves as a critical cofactor for various phosphomutases, thereby regulating essential metabolic pathways such as glycolysis and carbohydrate metabolism. PGM2L1 is highly expressed in neural tissues, and its deficiency is linked to a rare autosomal recessive neurodevelopmental disorder known as NEDHFS, which presents with hypotonia, seizures, and developmental delays. In the field of oncology, elevated levels of PGM2L1 mRNA have been identified as a prognostic biomarker in several cancers, including cholangiocarcinoma and gastric cancer, where it is thought to facilitate metabolic reprogramming to support tumor growth. While there are currently no FDA-approved drugs that specifically target PGM2L1 mRNA, it is considered a potential therapeutic target for RNA-based modalities such as small interfering RNAs (siRNAs) or antisense oligonucleotides (ASOs). These strategies could be employed to either silence the gene in overexpressing cancers or potentially modulate metabolic flux in other disease contexts.

Other names

Glucose 1,6-bisphosphate synthase mRNAPMMM1 mRNAPhosphoglucomutase-2-like 1 mRNANEDHFS-associated mRNA

Modulation of gene expression via RNA interference (siRNA), antisense oligonucleotides (ASOs), or mRNA-based protein replacement.