PGM3 Gene Summary [Human]
This gene encodes a member of the phosphohexose mutase family. The encoded protein mediates both glycogen formation and utilization by catalyzing the interconversion of glucose-1-phosphate and glucose-6-phosphate. A non-synonymous single nucleotide polymorphism in this gene may play a role in resistance to diabetic nephropathy and neuropathy. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2010]
Details
| Type | Nonsense Mediated Decay |
| Official Symbol | PGM3 |
| Official Name | phosphoglucomutase 3 [Source:HGNC Symbol;Acc:HGNC:8907] |
| Ensembl ID | ENSG00000013375 |
| Bio databases IDs | |
| Aliases | phosphoglucomutase 3, acetylglucosamine phosphomutase, phosphoacetylglucosamine mutase |
| Synonyms | 2810473H05Rik, AGM1, IMD23, N-acetylglucosamine phosphate mutase, PAGM, phosphoglucomutase 3 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human PGM3 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- phosphohexomutase
- Phosphoglucomutase/phosphomannomutase, C-terminal domain
- phosphoacetylglucosamine mutase
- phosphoglucosamine mutase
- enzyme
- phosphoglucomutase
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- atopic dermatitis
- thrombocytopenia
- leukopenia
- schizophrenia
- immunodeficiency 23
- anemia
- severe combined immunodeficiency
- insomnia
- hyper-IgE syndrome
- hereditary disorder
regulates
- ACE
- UDP-N-acetylglucosamine
role in cell
- hematopoiesis
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- cytosol
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human PGM3 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- carbohydrate metabolic process
- protein O-linked glycosylation
- spermatogenesis
- hemopoiesis
- glucosamine metabolic process
- protein N-linked glycosylation
- UDP-N-acetylglucosamine biosynthetic process
Cellular Component
Where in the cell the gene product is active
- cytosol
Molecular Function
What the gene product does at the molecular level
- magnesium ion binding
- phosphoacetylglucosamine mutase activity