NAGLU Gene Summary [Human]
This gene encodes an enzyme that degrades heparan sulfate by hydrolysis of terminal N-acetyl-D-glucosamine residues in N-acetyl-alpha-D-glucosaminides. Defects in this gene are the cause of mucopolysaccharidosis type IIIB (MPS-IIIB), also known as Sanfilippo syndrome B. This disease is characterized by the lysosomal accumulation and urinary excretion of heparan sulfate. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | NAGLU |
| Official Name | N-acetyl-alpha-glucosaminidase [Source:HGNC Symbol;Acc:HGNC:7632] |
| Ensembl ID | ENSG00000108784 |
| Bio databases IDs | |
| Aliases | N-acetyl-alpha-glucosaminidase, Sanfilippo disease IIIB |
| Synonyms | alpha-N-acetylglucosaminidase (Sanfilippo disease IIIB), CMT2V, MPS3B, MPS-IIIB, N-acetyl-alpha-glucosaminidase, N-ACETYLGLUCOSAMINIDASE, N-acetyl-α-glucosaminidase, NAG, RGD1564228, UFHSD, α n acetylglucosaminidase, α-N-acetylglucosaminidase (Sanfilippo disease IIIB) |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human NAGLU often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Alpha-N-acetylglucosaminidase (NAGLU) N-terminal domain
- alpha-N-acetylglucosaminidase
- Alpha-N-acetylglucosaminidase (NAGLU) tim-barrel domain
- Alpha-N-acetylglucosaminidase (NAGLU) C-terminal domain
- enzyme
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- acute hepatitis
- mucopolysaccharidosis type IIIB
- acute kidney injury
- diabetes mellitus
- urinary retention
- hepatic fibrosis
- hereditary disorder
- diabetic nephropathy
- axonal Charcot-Marie-Tooth disease type 2V
- glomerulopathy
regulates
- heparin
- proteoglycan
- ganglioside
- Lyz1/Lyz2
- glycoprotein
- APP
- proteasome
- lipid
- glycosaminoglycan
- heparan sulfate proteoglycan
role in cell
- expression in
- differentiation
- degeneration
- formation
- formation in
- activation
- number
- abnormal morphology
- organization
- vacuolation
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- vacuole
- lysosome
- lysosomal compartment
- azurophil granules
- exosomes
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human NAGLU gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- microglia differentiation
- exploration behavior
- multicellular organismal iron ion homeostasis
- determination of adult lifespan
- Golgi organization
- nervous system development
- response to wounding
- middle ear morphogenesis
- ganglioside metabolic process
- nerve development
- endothelium development
- cerebellar Purkinje cell layer development
- astrocyte activation
- locomotor rhythm
- liver development
- autophagy
- cellular lipid catabolic process
- heparan sulfate proteoglycan catabolic process
- heparin metabolic process
- heparan sulfate proteoglycan metabolic process
- maintenance of blood-brain barrier
- collagen metabolic process
- lysosome organization
- limb development
- response to disaccharide stimulus
- toll-like receptor 4 signaling pathway
- mitral valve morphogenesis
- inner ear receptor cell development
- left ventricular cardiac muscle tissue morphogenesis
- amyloid precursor protein metabolic process
- hormone metabolic process
- cytoplasm organization
- retinal rod cell development
- microglial cell activation
- aorta morphogenesis
- proteasomal ubiquitin-dependent protein catabolic process
- superoxide metabolic process
- cardiac muscle cell development
- hair follicle morphogenesis
- cellular response to oxidative stress
- protein processing
- response to lipopolysaccharide
- cellular response to organic cyclic compound
- adult behavior
Cellular Component
Where in the cell the gene product is active
- extracellular vesicular exosome
- lysosomal lumen
- lysosome
Molecular Function
What the gene product does at the molecular level
- alpha-N-acetylglucosaminidase activity