ALG11
Alpha-1,2-mannosyltransferase involved in N-glycan biosynthesis and congenital disorders of glycosylation
Gene Information Card
| Symbol | ALG11 |
|---|---|
| Full Name | ALG11 alpha-1,2-mannosyltransferase |
| Gene Type | Protein coding |
| Chromosomal Location | 13q14.3 |
| NCBI Gene ID | 440138 ncbi.nlm.nih.gov/gene/440138 |
| Ensembl ID | ENSG00000180667 |
| UniProt ID | Q2TAA5 |
| OMIM ID | 613666 |
| HGNC ID | 32456 |
| Aliases | ALG11, CDG-1P, ALG11 mannosyltransferase |
Description
The ALG11 gene encodes alpha-1,2-mannosyltransferase, an enzyme localized to the endoplasmic reticulum that catalyzes the addition of mannose residues to the lipid-linked oligosaccharide precursor during N-glycan biosynthesis. Mutations in ALG11 cause congenital disorder of glycosylation type 1P (CDG-1P), characterized by neurological impairment, developmental delay, and dysmorphic features.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Congenital disorder of glycosylation type 1P (CDG-1P) | Loss-of-function mutations in ALG11 impair N-glycan assembly, leading to underglycosylation of proteins | Multiple case reports (OMIM #613666) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 5.2 | Low |
| Liver | 3.8 | Low |
| Kidney | 4.1 | Low |
| Testis | 6.0 | Medium |
| Pancreas | 2.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 4.5 | Moderate expression |
| HeLa | 3.2 | Low expression |
| HepG2 | 5.0 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.494G>A (p.Arg165Gln) | Missense | Rare | Loss of function; reduced mannosyltransferase activity |
| c.1A>G (p.Met1?) | Start loss | Rare | Loss of function; no protein production |
| c.1042C>T (p.Arg348*) | Nonsense | Rare | Loss of function; truncated protein |
Mutation functional classification
Loss of Function (LOF)
Most ALG11 mutations are loss-of-function, leading to reduced or absent enzyme activity and defective N-glycan biosynthesis.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported; inheritance is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • GO:0004576 - alpha-1 | • 2-mannosyltransferase activity |
| • GO:0006488 - dolichol-linked oligosaccharide biosynthetic process | • GO:0005789 - endoplasmic reticulum membrane |
| • GO:0016021 - integral component of membrane |
Pathways
• N-glycan biosynthesis (Reactome R-HSA-446203)
• Congenital disorders of glycosylation (KEGG hsa00510)
Protein Summary
ALG11 is a 486-amino acid transmembrane protein localized to the endoplasmic reticulum. It functions as a mannosyltransferase that adds the fourth and fifth mannose residues to the Man3GlcNAc2-PP-dolichol intermediate. Deficiency leads to accumulation of truncated oligosaccharides and severe glycosylation defects.
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