PGM2L1 Gene Summary [Human]
Enables glucose-1,6-bisphosphate synthase activity. Predicted to be involved in glucose metabolic process and phosphorylation. Predicted to be located in cytosol. [provided by Alliance of Genome Resources, Apr 2022]
Details
| Type | Protein Coding |
| Official Symbol | PGM2L1 |
| Official Name | phosphoglucomutase 2 like 1 [Source:HGNC Symbol;Acc:HGNC:20898] |
| Ensembl ID | ENSG00000165434 |
| Bio databases IDs | |
| Aliases | phosphoglucomutase 2 like 1, glucose-1,6-bisphosphate synthase |
| Synonyms | 4931406N15RIK, BM32A, FLJ32029, LOC683619, NEDHFS, phosphoglucomutase 2-like 1, PMMLP |
| 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 PGM2L1 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
- phosphoglucosamine mutase
- Phosphoglucomutase/phosphomannomutase, alpha/beta/alpha domain III
- enzyme
- Phosphoglucomutase/phosphomannomutase, alpha/beta/alpha domain II
- glucose-1,6-bisphosphate synthase
- Phosphoglucomutase/phosphomannomutase, alpha/beta/alpha domain I
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- hippocampal atrophy
- neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities
- hereditary disorder
- Parkinson disease
- aortic valve calcification
regulates
- glucose-1,6-bisphosphate
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 PGM2L1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- glucose metabolic process
Cellular Component
Where in the cell the gene product is active
- cytosol
Molecular Function
What the gene product does at the molecular level
- intramolecular transferase activity, phosphotransferases
- metal ion binding
- glucose-1,6-bisphosphate synthase activity