ALG10B
Alpha-1,2-glucosyltransferase ALG10B
Gene Information Card
| Symbol | ALG10B |
|---|---|
| Full Name | ALG10B, alpha-1,2-glucosyltransferase |
| Gene Type | protein-coding |
| Chromosomal Location | 12q14.2 |
| NCBI Gene ID | 144245 ncbi.nlm.nih.gov/gene/144245 |
| Ensembl ID | ENSG00000139269 |
| UniProt ID | Q5H8A4 |
| OMIM ID | 612985 |
| HGNC ID | 23162 |
| Aliases | ALG10, DIE2, KCR1, FLJ14753 |
Description
ALG10B encodes a member of the glycosyltransferase family 57. The protein catalyzes the addition of the second glucose residue to the lipid-linked oligosaccharide (LLO) precursor during N-glycosylation. This step is essential for proper protein folding and quality control in the endoplasmic reticulum. Mutations in ALG10B are associated with congenital disorders of glycosylation (CDG) type I.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Congenital disorder of glycosylation type I (ALG10B-CDG) | Loss-of-function mutations impair LLO glucosylation, leading to underglycosylation of proteins | ClinVar, OMIM |
| ALG10B-related intellectual disability | Defective N-glycosylation affects neuronal protein processing | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 5.2 | Low |
| Liver | 3.8 | Low |
| Kidney | 4.1 | Low |
| Testis | 6.0 | Medium |
| Pancreas | 2.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 4.5 | Low expression |
| HepG2 | 3.2 | Low expression |
| SH-SY5Y | 5.8 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | missense | <0.01% | Likely loss of start codon, loss of function |
| c.742C>T (p.Arg248Trp) | missense | <0.01% | Impaired enzyme activity, CDG phenotype |
Mutation functional classification
Loss of Function (LOF)
Missense and nonsense variants that reduce or abolish glucosyltransferase activity lead to ALG10B-CDG.
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)
| • glycosyltransferase activity | • alpha-1 |
| • 2-glucosyltransferase activity | • endoplasmic reticulum membrane |
| • N-glycan processing | • protein N-linked glycosylation |
Pathways
• N-glycan biosynthesis
• Protein processing in endoplasmic reticulum
Protein Summary
ALG10B is a 526-amino acid transmembrane protein localized to the endoplasmic reticulum. It functions as an alpha-1,2-glucosyltransferase that adds the second glucose to the growing LLO chain. This modification is critical for the recognition of glycoproteins by calnexin/calreticulin chaperones. Defects in this enzyme cause a subtype of congenital disorder of glycosylation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ALG10B Knockout HEK293 Cell Line | EDJ-KQ10409 | Human | 144245 | Details Get a Quote |
| ALG10B Knockout A-549 Cell Line | EDJ-KQ37765 | Human | 144245 | Details Get a Quote |
| ALG10B Knockout HCT 116 Cell Line | EDJ-KQ37766 | Human | 144245 | Details Get a Quote |
| ALG10B Knockout HeLa Cell Line | EDJ-KQ37767 | Human | 144245 | Details Get a Quote |
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