PGAM2 phosphoglycerate mutase 2
Gene ID: 5224, updated on 4-Jan-2025Gene type: protein coding
Also known as: GSD10; PGAMM; PGAM-M
- See all available tests in GTR for this gene
- Go to complete Gene record for PGAM2
- Go to Variation Viewer for PGAM2 variants
Summary
Phosphoglycerate mutase (PGAM) catalyzes the reversible reaction of 3-phosphoglycerate (3-PGA) to 2-phosphoglycerate (2-PGA) in the glycolytic pathway. The PGAM is a dimeric enzyme containing, in different tissues, different proportions of a slow-migrating muscle (MM) isozyme, a fast-migrating brain (BB) isozyme, and a hybrid form (MB). This gene encodes muscle-specific PGAM subunit. Mutations in this gene cause muscle phosphoglycerate mutase eficiency, also known as glycogen storage disease X. [provided by RefSeq, Sep 2009]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Glycogen storage disease type X | See labs |
Genomic context
- Location:
- 7p13
- Sequence:
- Chromosome: 7; NC_000007.14 (44062727..44065567, complement)
- Total number of exons:
- 3
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for PGAM2 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PGAM2 database
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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