PGM1

Chr 1

phosphoglucomutase 1

Also known as: CDG1T, GSD14

NCBI Gene: 5236 ENSG00000079739 UniProt: P36871

Phosphoglucomutase 1 catalyzes the reversible conversion of glucose 1-phosphate to glucose 6-phosphate, participating in both glucose breakdown and synthesis and representing about 90% of total phosphoglucomutase activity in most cell types. Mutations cause congenital disorder of glycosylation type It, which is inherited in an autosomal recessive pattern. This gene shows tolerance to loss-of-function variants (LOEUF 1.319), suggesting that complete loss of function may be compatible with survival when biallelic mutations occur.

ResearchSummary from RefSeq, OMIM, UniProt

The protein encoded by this gene is an isozyme of phosphoglucomutase (PGM) 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. In most cell types, this PGM isozyme is predominant, representing about 90% of total PGM activity. In red cells, PGM2 is a major isozyme. This gene is highly polymorphic. Mutations in this gene cause glycogen storage disease type 14. Alternativley spliced transcript variants encoding different isoforms have been identified in this gene.[provided by RefSeq, Mar 2010]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtCongenital disorder of glycosylation 1T

Clinical highlights

Gene-disease validity (ClinGen)

PGM1-congenital disorder of glycosylation · ARDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

1.32

LOEUF

LOF

Mechanism· G2P

Some data sources returned errors (1)

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