ALG12 Gene Summary [Human]
This gene encodes a member of the glycosyltransferase 22 family. The encoded protein catalyzes the addition of the eighth mannose residue in an alpha-1,6 linkage onto the dolichol-PP-oligosaccharide precursor (dolichol-PP-Man(7)GlcNAc(2)) required for protein glycosylation. Mutations in this gene have been associated with congenital disorder of glycosylation type Ig (CDG-Ig)characterized by abnormal N-glycosylation. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | ALG12 |
| Official Name | ALG12 alpha-1,6-mannosyltransferase [Source:HGNC Symbol;Acc:HGNC:19358] |
| Ensembl ID | ENSG00000182858 |
| Bio databases IDs | |
| Aliases | ALG12 alpha-1,6-mannosyltransferase, dolichyl-P-Man:Man(7)GlcNAc(2)-PP-dolichol alpha-1,6-mannosyltransferase, dol-P-Man dependent alpha-1,6-mannosyltransferase |
| Synonyms | ALG12 alpha-1,6-mannosyltransferase, ALG12, alpha-1,6-mannosyltransferase, ALG12 α-1,6-mannosyltransferase, ALG12, α-1,6-mannosyltransferase, CDG1G, ECM39, hALG12, PP14673 |
| 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 ALG12 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- alpha-1,6-mannosyltransferase
- Alg9-like mannosyltransferase family
- mannosyltransferase
- enzyme
- dolichyl-phosphate-mannose-protein mannosyltransferase
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- hereditary disorder
- congenital disorder of glycosylation type 1g
- schizophrenia
- congenital disorders of glycosylation
regulates
- oligosaccharide-diphosphodolichol
role in cell
- dipeptide repeat protein sensitivity
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
- endoplasmic reticulum membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human ALG12 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- protein N-linked glycosylation
- protein folding
- dolichol-linked oligosaccharide biosynthetic process
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum membrane
- membrane
- endoplasmic reticulum
Molecular Function
What the gene product does at the molecular level
- mannosyltransferase activity
- dol-P-Man:Man(7)GlcNAc(2)-PP-Dol alpha-1,6-mannosyltransferase activity
- alpha-1,6-mannosyltransferase activity