NAGA Gene - Alpha-N-Acetylgalactosaminidase
Comprehensive gene card for NAGA, encoding alpha-N-acetylgalactosaminidase, associated with Kanzaki disease and Schindler disease.
Gene Information Card
| Symbol | NAGA |
|---|---|
| Full Name | Alpha-N-Acetylgalactosaminidase |
| Gene Type | Protein coding |
| Chromosomal Location | 22q13.2 |
| NCBI Gene ID | 4668 ncbi.nlm.nih.gov/gene/4668 |
| Ensembl ID | ENSG00000100320 |
| UniProt ID | P17050 |
| OMIM ID | 104170 |
| HGNC ID | 7631 |
| Aliases | D22S674, GALN, NAGA-1, NAGA-2 |
Description
The NAGA gene encodes alpha-N-acetylgalactosaminidase, a lysosomal enzyme that hydrolyzes terminal alpha-N-acetylgalactosamine residues from glycoproteins and glycolipids. Mutations in NAGA cause lysosomal storage disorders, including Schindler disease (type I, II, III) and Kanzaki disease. The gene is located on chromosome 22q13.2 and is expressed in multiple tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Schindler disease type I (infantile) | Loss-of-function mutations in NAGA lead to deficient alpha-N-acetylgalactosaminidase activity, causing accumulation of glycoconjugates in lysosomes, resulting in severe neuroaxonal dystrophy. | ClinVar, OMIM |
| Schindler disease type II (adult-onset) | Partial enzyme deficiency due to missense mutations, leading to milder neurological symptoms and angiokeratoma. | ClinVar, OMIM |
| Kanzaki disease | Specific missense mutations (e.g., p.Glu325Lys) cause residual enzyme activity, presenting with angiokeratoma, mild intellectual disability, and peripheral neuropathy. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 15.2 | Medium |
| Liver | 12.8 | Medium |
| Kidney | 18.5 | Medium |
| Heart | 10.1 | Medium |
| Lung | 9.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 20.5 | High expression |
| HeLa | 14.2 | Medium expression |
| K562 | 8.7 | Low expression |
| HepG2 | 16.1 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.973G>A (p.Glu325Lys) | Missense | Common in Kanzaki disease | Reduced enzyme activity, residual function |
| c.985C>T (p.Arg329Trp) | Missense | Rare | Loss of function, Schindler disease |
| c.1078G>A (p.Gly360Arg) | Missense | Rare | Loss of function, Schindler disease |
| c.1A>G (p.Met1?) | Start loss | Rare | Complete loss of function, severe phenotype |
Mutation functional classification
Loss of Function (LOF)
Most NAGA mutations result in loss of enzymatic activity, leading to substrate accumulation in lysosomes and disease.
Gain of Function (GOF)
No gain-of-function mutations reported for NAGA.
Dominant Negative (DN)
No dominant-negative mutations reported; NAGA deficiency is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • hydrolase activity (GO:0004553) | • lysosome (GO:0005764) |
| • carbohydrate metabolic process (GO:0005975) | • hydrolase activity (GO:0016787) |
| • ganglioside catabolic process (GO:0006689) |
Pathways
• Lysosome (KEGG: hsa04142)
• Glycosphingolipid biosynthesis - globo series (KEGG: hsa00603)
• Metabolism of glycoproteins (Reactome: R-HSA-446203)
Protein Summary
Alpha-N-acetylgalactosaminidase (NAGA) is a lysosomal exoglycosidase that cleaves terminal alpha-N-acetylgalactosamine residues from glycoproteins and glycolipids. The enzyme is a homodimer and requires no cofactors. Deficiency leads to accumulation of substrates such as sialyl-Tn antigen, causing lysosomal storage disorders. The protein is encoded by the NAGA gene on chromosome 22q13.2.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NAGA Knockout HEK293 Cell Line | EDJ-KQ5306 | Human | 4668 | Details Get a Quote |
| NAGA Knockout A-549 Cell Line | EDJ-KQ28370 | Human | 4668 | Details Get a Quote |
| NAGA Knockout HCT 116 Cell Line | EDJ-KQ28371 | Human | 4668 | Details Get a Quote |
| NAGA Knockout HeLa Cell Line | EDJ-KQ28372 | Human | 4668 | Details Get a Quote |
