ALG9 Gene Summary [Human]
This gene encodes an alpha-1,2-mannosyltransferase enzyme that functions in lipid-linked oligosaccharide assembly. Mutations in this gene result in congenital disorder of glycosylation type Il. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]
Details
| Type | Protein Coding |
| Official Symbol | ALG9 |
| Official Name | ALG9 alpha-1,2-mannosyltransferase [Source:HGNC Symbol;Acc:HGNC:15672] |
| Ensembl ID | ENSG00000086848 |
| Bio databases IDs | |
| Aliases | ALG9 alpha-1,2-mannosyltransferase, dolichyl-P-Man:Man(6)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase, dolichyl-P-Man:Man(8)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase, dol-P-Man dependent alpha-1,2-mannosyltransferase |
| Synonyms | 8230402H15Rik, ALG9 alpha-1,2-mannosyltransferase, ALG9, alpha-1,2-mannosyltransferase, ALG9 α-1,2-mannosyltransferase, ALG9, α-1,2-mannosyltransferase, B430313H07RIK, CDG1L, DIBD1, GIKANIS, LOH11CR1J |
| 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 ALG9 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Alg9-like mannosyltransferase family
- enzyme
- alpha-1,2-mannosyltransferase
- 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
- congenital disorder of glycosylation type 1l
- gout
- Gillessen-Kaesbach-Nishimura syndrome
- autosomal dominant polycystic kidney disease type 1
- ALG9-associated autosomal dominant polycystic kidney disease
- spinal cord disorder
- cardiovascular disorder
regulates
- oligosaccharide-diphosphodolichol
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 ALG9 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- protein N-linked glycosylation
- dolichol-linked oligosaccharide biosynthetic process
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum membrane
- membrane
Molecular Function
What the gene product does at the molecular level
- dol-P-Man:Man(8)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase activity
- dol-P-Man:Man(6)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase activity
- alpha-1,2-mannosyltransferase activity