NAGLU - N-acetyl-alpha-glucosaminidase Gene
Also Known as NAG; CMT2V; MPS3B; UFHSD; MPS-IIIB
Species: Homo sapiens
About NAGLU
This gene has 5 transcripts (splice variants), 198 orthologues and is associated with 5 phenotypes. Ubiquitous expression in kidney (RPKM 14.8), fat (RPKM 12.3) and 25 other tissues.
Summary
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]
NAGLU Products (1)
| mRNA | Protein | Name |
|---|---|---|
| NM_000263.4 | NP_000254.2 | alpha-N-acetylglucosaminidase precursor |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in extracellular exosome |
IDA
IDA: Inferred from direct assay
|
21082674 | GOA |
NAGLU Protein Structure
NAGLU_N: Alpha-N-acetylglucosaminidase (NAGLU) N-terminal domain (29 - 117)
NAGLU: Alpha-N-acetylglucosaminidase (NAGLU) tim-barrel domain (130 - 466)
NAGLU_C: Alpha-N-acetylglucosaminidase (NAGLU) C-terminal domain (474 - 734)
- 0
- 200
- 400
- 600
- 743 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
alpha-N-acetylglucosaminidase |
|
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Charcot-Marie-Tooth Disease, Axonal, Type 2v |
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| Mucopolysaccharidosis, Type Iiib |
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| Hypertrichosis |
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| Mucopolysaccharidosis Iii |
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| Mucopolysaccharidosis, Type Iiia |
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| Lysosomal Storage Disease |
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| Mucopolysaccharidosis-Plus Syndrome |
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| Acute Pyelonephritis |
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| Kidney Disease |
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| Mucopolysaccharidosis, Type Iiic |
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| Scheie Syndrome |
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| Urinary System Disease |
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| Urinary Tract Obstruction |
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| Pyelonephritis |
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| Mucopolysaccharidosis, Type Iiid |
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| Nephrolithiasis, Calcium Oxalate |
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| Vesicoureteral Reflux |
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| Mucopolysaccharidosis, Type Iva |
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| Kluver-Bucy Syndrome |
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| Mucopolysaccharidosis, Type Ivb |
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| Mucopolysaccharidosis, Type Vii |
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| Mucopolysaccharidosis Iv |
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| Lipoid Nephrosis |
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| Mucopolysaccharidosis, Type Ii |
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| Mucolipidosis Iii Alpha/Beta |
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| Mucopolysaccharidosis, Type Vi |
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| Microvascular Complications Of Diabetes 3 |
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| Hepatorenal Syndrome |
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| Glycogen Storage Disease |
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| Hurler Syndrome |
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| Lowe Oculocerebrorenal Syndrome |
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| Hydronephrosis |
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| Mannosidosis, Alpha B, Lysosomal |
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| Acute Kidney Tubular Necrosis |
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| Gangliosidosis |
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| Gm1 Gangliosidosis |
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| Sandhoff Disease |
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| Nephrotic Syndrome |
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| Fucosidosis |
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| Hurler-Scheie Syndrome |
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| Krabbe Disease |
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| Type 1 Diabetes Mellitus |
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| Fanconi Syndrome |
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| Gm2 Gangliosidosis |
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| Galactosialidosis |
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| Mucolipidosis |
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| Ceroid Lipofuscinosis, Neuronal, 3 |
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| Canavan Disease |
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| Neuronal Ceroid Lipofuscinosis |
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| Niemann-Pick Disease, Type A |
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| Charcot-Marie-Tooth Disease |
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| Metachromatic Leukodystrophy |
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| Sphingolipidosis |
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| Tay-Sachs Disease |
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| Gaucher'S Disease |
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| Type 2 Diabetes Mellitus |
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| Inguinal Hernia |
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Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Rattus norvegicus | NAGLU | RGD | RGD:1564228 |
| Felis catus | NAGLU | VGNC | VGNC:68411 |
| Mus musculus | NAGLU | MGD | MGI:1351641 |
| Macaca mulatta | NAGLU | VGNC | VGNC:75127 |
| Bos taurus | NAGLU | VGNC | VGNC:31869 |
| Canis familiaris | NAGLU | VGNC | VGNC:43609 |
| Others | NAGLU | NCBI |