ALG6
ALG6 Alpha-1,3-Glucosyltransferase
Gene Information Card
| Symbol | ALG6 |
|---|---|
| Full Name | ALG6 alpha-1,3-glucosyltransferase |
| Gene Type | protein-coding |
| Chromosomal Location | 1p31.1 |
| NCBI Gene ID | 29929 ncbi.nlm.nih.gov/gene/29929 |
| Ensembl ID | ENSG00000188021 |
| UniProt ID | Q9Y672 |
| OMIM ID | 604566 |
| HGNC ID | 23157 |
| Aliases | CDG1C, ALG6, glucosyltransferase I, dolichyl-P-Glc:Man9GlcNAc2-PP-dolichol alpha-1,3-glucosyltransferase |
Description
The ALG6 gene encodes alpha-1,3-glucosyltransferase, an enzyme localized in the endoplasmic reticulum that catalyzes the addition of the first glucose residue to the lipid-linked oligosaccharide (LLO) precursor Man9GlcNAc2-PP-dolichol during N-linked protein glycosylation. This step is essential for proper folding and quality control of glycoproteins. Mutations in ALG6 cause congenital disorder of glycosylation type Ic (ALG6-CDG), a multisystem disorder characterized by developmental delay, hypotonia, seizures, and coagulopathy.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Congenital disorder of glycosylation type Ic (ALG6-CDG) | Loss-of-function mutations in ALG6 impair the addition of the first glucose to the LLO, leading to underglycosylation of multiple glycoproteins. | OMIM #603147; ClinVar; multiple case reports |
| Intellectual disability (non-syndromic) | ALG6 variants may contribute to neurodevelopmental phenotypes through altered glycosylation of neuronal proteins. | ClinVar; literature association studies |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Brain | 8.3 | Low |
| Kidney | 10.1 | Medium |
| Heart | 7.4 | Low |
| Pancreas | 6.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 14.2 | Hepatocellular carcinoma cell line |
| K562 | 9.8 | Chronic myelogenous leukemia |
| HeLa | 11.5 | Cervical adenocarcinoma |
| A549 | 8.1 | Lung carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.998C>T (p.Ala333Val) | Missense | Common in ALG6-CDG | Reduced enzymatic activity; impaired glucose transfer |
| c.391T>C (p.Tyr131His) | Missense | Rare | Loss of function; associated with CDG |
| c.1132C>T (p.Arg378Cys) | Missense | Rare | Decreased protein stability and activity |
| c.1287+1G>A | Splice donor | Rare | Splicing defect; loss of function |
Mutation functional classification
Loss of Function (LOF)
Most ALG6 mutations are loss-of-function, reducing or abolishing glucosyltransferase activity, leading to incomplete LLO assembly and N-glycosylation defects.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative effects described; ALG6-CDG is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • GO:0006487 – protein N-linked glycosylation | • GO:0004578 – dolichyl-diphosphooligosaccharide-protein glycotransferase activity |
| • GO:0005789 – endoplasmic reticulum membrane | • GO:0016757 – transferase activity |
| • transferring glycosyl groups | • GO:0006486 – protein glycosylation |
Pathways
• N-glycan biosynthesis (KEGG: hsa00510)
• Dolichol-linked oligosaccharide biosynthesis (Reactome: R-HSA-446193)
Protein Summary
ALG6 is a 507-amino acid transmembrane protein localized to the endoplasmic reticulum. It belongs to the glycosyltransferase family 57 and catalyzes the transfer of glucose from dolichyl-phosphate-glucose to Man9GlcNAc2-PP-dolichol, forming Glc1Man9GlcNAc2-PP-dolichol. This step is critical for the proper assembly of the oligosaccharide precursor required for N-glycosylation. Deficiency leads to accumulation of truncated LLO and hypoglycosylation of secretory and membrane proteins.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ALG6 Knockout HEK293 Cell Line | EDJ-KQ9087 | Human | 29929 | Details Get a Quote |
| ALG6 Knockout A-549 Cell Line | EDJ-KQ35584 | Human | 29929 | Details Get a Quote |
| ALG6 Knockout HCT 116 Cell Line | EDJ-KQ35585 | Human | 29929 | Details Get a Quote |
| ALG6 Knockout HeLa Cell Line | EDJ-KQ35586 | Human | 29929 | Details Get a Quote |
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