AGA: Aspartylglucosaminidase
Gene encoding the enzyme aspartylglucosaminidase, involved in glycoprotein degradation; mutations cause aspartylglucosaminuria (AGU).
Gene Information Card
| Symbol | AGA |
|---|---|
| Full Name | Aspartylglucosaminidase |
| Gene Type | Protein coding |
| Chromosomal Location | 4q34.3 |
| NCBI Gene ID | 175 ncbi.nlm.nih.gov/gene/175 |
| Ensembl ID | ENSG00000138079 |
| UniProt ID | P20933 |
| OMIM ID | 613228 |
| HGNC ID | 318 |
| Aliases | AGU, ASRG, GA, N-aspartyl-beta-glucosaminidase |
Description
The AGA gene encodes aspartylglucosaminidase, a lysosomal enzyme that cleaves the N-acetylglucosamine-asparagine bond during glycoprotein degradation. Mutations in AGA cause aspartylglucosaminuria (AGU), an autosomal recessive lysosomal storage disorder characterized by progressive intellectual disability, skeletal abnormalities, and coarse facial features.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Aspartylglucosaminuria (AGU) | Loss-of-function mutations in AGA lead to deficient enzyme activity, accumulation of aspartylglucosamine in lysosomes, and progressive neurodegeneration. | OMIM #208400; ClinVar; multiple case studies |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Liver | 15.3 | Medium |
| Kidney | 18.7 | Medium |
| Lung | 10.1 | Low |
| Heart | 8.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 14.2 | Moderate expression |
| HeLa | 11.8 | Moderate expression |
| HepG2 | 16.5 | Moderate expression |
| K562 | 9.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.488G>A (p.Trp163*) | Nonsense | ~98% in Finnish population | Loss of function; premature stop codon |
| c.482G>A (p.Arg161Gln) | Missense | Rare | Reduced enzyme activity |
| c.1A>G (p.Met1?) | Start loss | Rare | No protein production |
Mutation functional classification
Loss of Function (LOF)
Most AGA mutations cause complete or partial loss of aspartylglucosaminidase activity, leading to substrate accumulation and lysosomal dysfunction.
Gain of Function (GOF)
No gain-of-function mutations reported for AGA.
Dominant Negative (DN)
No dominant-negative effects described; disease is recessive.
View complete mutation data：
Gene Ontology (GO)
| • GO:0003940 - aspartylglucosaminidase activity | • GO:0005764 - lysosome |
| • GO:0006516 - glycoprotein catabolic process | • GO:0005975 - carbohydrate metabolic process |
Pathways
• Lysosome (KEGG: hsa04142)
• Glycoprotein degradation (Reactome: R-HSA-6798695)
Protein Summary
Aspartylglucosaminidase is a lysosomal amidase composed of two alpha and two beta subunits derived from a single precursor. It catalyzes the hydrolysis of the N-acetylglucosamine-asparagine linkage in glycoproteins. Deficiency leads to aspartylglucosaminuria.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| AGAP2 Knockout HEK293 Cell Line | EDJ-KQ921 | Human | 116986 | Details Get a Quote |
| RRAGA Knockout HEK293 Cell Line | EDJ-KQ1154 | Human | 10670 | Details Get a Quote |
| AGA Knockout HEK293 Cell Line | EDJ-KQ3361 | Human | 175 | Details Get a Quote |
| AGAP1 Knockout HEK293 Cell Line | EDJ-KQ3453 | Human | 116987 | Details Get a Quote |
| NAGA Knockout HEK293 Cell Line | EDJ-KQ5306 | Human | 4668 | Details Get a Quote |
| AGAP3 Knockout HEK293 Cell Line | EDJ-KQ7590 | Human | 116988 | Details Get a Quote |
| TAGAP Knockout HEK293 Cell Line | EDJ-KQ7606 | Human | 117289 | Details Get a Quote |
| AAGAB Knockout HEK293 Cell Line | EDJ-KQ12242 | Human | 79719 | Details Get a Quote |
| AGAP5 Knockout HEK293 Cell Line | EDJ-KQ12302 | Human | 729092 | Details Get a Quote |
| AGAP9 Knockout HEK293 Cell Line | EDJ-KQ12304 | Human | 642517 | Details Get a Quote |
| AGAP2 Knockout HCT 116 Cell Line | EDJ-KQ21179 | Human | 116986 | Details Get a Quote |
| AGA Knockout A-549 Cell Line | EDJ-KQ25025 | Human | 175 | Details Get a Quote |
| AGA Knockout HCT 116 Cell Line | EDJ-KQ25026 | Human | 175 | Details Get a Quote |
| AGA Knockout HeLa Cell Line | EDJ-KQ25027 | Human | 175 | Details Get a Quote |
| AGAP1 Knockout A-549 Cell Line | EDJ-KQ25192 | Human | 116987 | Details Get a Quote |
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