Gene
naglu
- ID
- ZDB-GENE-100726-2
- Name
- N-acetylglucosaminidase, alpha
- Symbol
- naglu Nomenclature History
- Previous Names
- None
- Type
- protein_coding_gene
- Location
- Chr: 24 Mapping Details/Browsers
- Description
- Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease axonal type 2V; mucopolysaccharidosis III; and mucopolysaccharidosis type IIIB. Orthologous to human NAGLU (N-acetyl-alpha-glucosaminidase).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 1 figure from Meireles et al., 2018
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Charcot-Marie-Tooth disease axonal type 2V | Alliance | ?Charcot-Marie-Tooth disease, axonal, type 2V | 616491 |
| mucopolysaccharidosis type IIIB | Alliance | Mucopolysaccharidosis type IIIB (Sanfilippo B) | 252920 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR024240 | Alpha-N-acetylglucosaminidase, N-terminal |
| Domain | IPR024732 | Alpha-N-acetylglucosaminidase, C-terminal |
| Domain | IPR024733 | Alpha-N-acetylglucosaminidase, tim-barrel domain |
| Family | IPR007781 | Alpha-N-acetylglucosaminidase |
| Homologous_superfamily | IPR029018 | Beta-hexosaminidase-like, domain 2 |
Domain Details Per Protein
| Protein | Length | Alpha-N-acetylglucosaminidase | Alpha-N-acetylglucosaminidase, C-terminal | Alpha-N-acetylglucosaminidase, N-terminal | Alpha-N-acetylglucosaminidase, tim-barrel domain | Beta-hexosaminidase-like, domain 2 |
|---|---|---|---|---|---|---|
|
UniProtKB:A0A8M9PY33
|
544 | |||||
|
UniProtKB:E7EYP9
|
757 |
Interactions and Pathways
No data available
Plasmids
No data available