ALG12
Alpha-1,6-Mannosyltransferase Involved in N-Glycosylation
Gene Information Card
| Symbol | ALG12 |
|---|---|
| Full Name | ALG12 alpha-1,6-mannosyltransferase |
| Gene Type | protein-coding |
| Chromosomal Location | 22q13.33 |
| NCBI Gene ID | 79087 ncbi.nlm.nih.gov/gene/79087 |
| Ensembl ID | ENSG00000100298 |
| UniProt ID | Q9BV10 |
| OMIM ID | 607144 |
| HGNC ID | 14458 |
| Aliases | EC 2.4.1.260, ALG12 mannosyltransferase, dolichyl-P-Man:Man(7)GlcNAc(2)-PP-dolichyl alpha-1,6-mannosyltransferase |
Description
The ALG12 gene encodes an alpha-1,6-mannosyltransferase that catalyzes the addition of the eighth mannose residue to the dolichol-linked oligosaccharide precursor during N-glycosylation. This enzyme is essential for proper protein glycosylation in the endoplasmic reticulum. Mutations in ALG12 cause congenital disorder of glycosylation type 1G (CDG-1G), characterized by multisystemic abnormalities including developmental delay, hypotonia, and dysmorphic features.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Congenital disorder of glycosylation type 1G (CDG-1G) | Loss-of-function mutations in ALG12 impair the addition of mannose to the lipid-linked oligosaccharide, leading to underglycosylation of proteins. | ClinVar, OMIM #607143 |
| ALG12-CDG | Deficient ALG12 activity results in accumulation of Man7GlcNAc2-PP-dolichol and reduced mature glycoproteins. | UniProt, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 7.2 | Medium |
| Pancreas | 5.8 | Medium |
| Kidney | 4.1 | Low |
| Brain | 3.5 | Low |
| Heart | 2.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 6.0 | Moderate expression |
| HeLa | 4.5 | Low expression |
| HepG2 | 7.8 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.100G>A (p.Gly34Arg) | Missense | Rare | Loss of function; associated with CDG-1G |
| c.365T>C (p.Leu122Pro) | Missense | Rare | Loss of function; reduces enzyme activity |
| c.740G>A (p.Arg247Gln) | Missense | Rare | Likely pathogenic; reported in CDG-1G patients |
Mutation functional classification
Loss of Function (LOF)
Most ALG12 mutations are loss-of-function, reducing or abolishing mannosyltransferase activity, leading to CDG-1G.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • GO:0004576 - dolichyl-phosphate-mannose-protein mannosyltransferase activity | • GO:0006488 - dolichol-linked oligosaccharide biosynthetic process |
| • GO:0005789 - endoplasmic reticulum membrane | • GO:0018279 - protein N-linked glycosylation via asparagine |
Pathways
• KEGG hsa00510 - N-Glycan biosynthesis
• Reactome R-HSA-446203 - Asparagine N-linked glycosylation
Protein Summary
ALG12 is a 488-amino acid transmembrane protein localized to the endoplasmic reticulum membrane. It belongs to the glycosyltransferase family 22 and catalyzes the transfer of mannose from dolichyl-phosphate-mannose to the Man7GlcNAc2-PP-dolichol intermediate, forming Man8GlcNAc2-PP-dolichol. This step is critical for the assembly of the lipid-linked oligosaccharide precursor used in N-glycosylation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ALG12 Knockout HEK293 Cell Line | EDJ-KQ12332 | Human | 79087 | Details Get a Quote |
| ALG12 Knockout A-549 Cell Line | EDJ-KQ41177 | Human | 79087 | Details Get a Quote |
| ALG12 Knockout HCT 116 Cell Line | EDJ-KQ41178 | Human | 79087 | Details Get a Quote |
| ALG12 Knockout HeLa Cell Line | EDJ-KQ41179 | Human | 79087 | Details Get a Quote |
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