PMM2 Gene Summary [Human]
The protein encoded by this gene catalyzes the isomerization of mannose 6-phosphate to mannose 1-phosphate, which is a precursor to GDP-mannose necessary for the synthesis of dolichol-P-oligosaccharides. Mutations in this gene have been shown to cause defects in glycoprotein biosynthesis, which manifests as carbohydrate-deficient glycoprotein syndrome type I. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | PMM2 |
| Official Name | phosphomannomutase 2 [Source:HGNC Symbol;Acc:HGNC:9115] |
| Ensembl ID | ENSG00000140650 |
| Bio databases IDs | |
| Aliases | phosphomannomutase 2, phosphomannose isomerase 1, mannose-6-phosphate isomerase, Congenital disorder of glycosylation, type Ia |
| Synonyms | CDG1, CDG1a, CDGS, phosphomannomutase 2, Phosphomannose Mutase 2, PMI, PMI1 |
| 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 PMM2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- HAD-superfamily hydrolase, subfamily IIB
- enzyme
- protein binding
- Cof subfamily of IIB subfamily of haloacid dehalogenase superfamily
- phosphomannomutase
- Haloacid Dehalogenase-like Hydrolases
- haloacid dehalogenase-like hydrolase
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- chronic lymphocytic leukemia
- congenital disorder of glycosylation type 1a
- mental retardation
- cerebellar ataxia
- premature ovarian failure
- hereditary disorder
- autosomal recessive nonsyndromic mental retardation
- cerebellar hypoplasia or atrophy, epilepsy, and global developmental delay
- breast cancer
- open-angle glaucoma
regulates
- ICAM1
- glucose(3)-mannose(9)-N-acetylglucosamine(2)-P-P-dolichol
- mannosyl(5)-N-acetyl(2)-glucose diphosphate dolichol
- GDP-D-mannose
role in cell
- expression in
- cell viability
- growth
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
- microtubule cytoskeleton
- cilia
- cytosol
- nucleoplasm
- perikaryon
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human PMM2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- GDP-mannose biosynthetic process
- mannose metabolic process
- protein glycosylation
- protein N-linked glycosylation
Cellular Component
Where in the cell the gene product is active
- cytosol
- neuronal cell body
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- protein binding
- phosphomannomutase activity
- metal ion binding