NAGLU Chromosome 17
N-acetyl-alpha-glucosaminidase
Upload your DNA to see your personal genotypes for variants in NAGLU.
What This Gene Does
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]
Gene Info
Gene Group
Glycoside hydrolase family
Locus Type
gene with protein product
Location
17q21.2
Ensembl
ENSG00000108784
Associated Conditions (18)
Charcot-Marie-Tooth disease axonal type 2V
Mucopolysaccharidosis
MPS-III-B
NAGLU-related disorder
Inborn genetic diseases
Intellectual disability
Melanoma
Tip-toe gait
See cases
Mucopolysaccharidosistype IIIB
Abnormality of metabolism/homeostasis
Cardiomyopathy
8 conditions
Familial cancer of breast
Lysosomal storage disease
Sanfilippo syndrome
Charcot-Marie-Tooth disease
Malignant tumor of esophagus
Key Variants
RS1024697806
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease axonal type 2V, Mucopolysaccharidosis, MPS-III-B
Health Risk
RS104894593
Conflicting classifications of pathogenicity
Mucopolysaccharidosis, MPS-III-B, Charcot-Marie-Tooth disease axonal type 2V
Health Risk
RS112751577
Conflicting classifications of pathogenicity
Mucopolysaccharidosis, MPS-III-B, Charcot-Marie-Tooth disease axonal type 2V
Health Risk
RS114605439
Conflicting classifications of pathogenicity
Mucopolysaccharidosis, MPS-III-B, Charcot-Marie-Tooth disease axonal type 2V
Health Risk
RS114687267
Conflicting classifications of pathogenicity
Mucopolysaccharidosis, MPS-III-B, Charcot-Marie-Tooth disease axonal type 2V
Health Risk
RS115401566
Conflicting classifications of pathogenicity
Mucopolysaccharidosis, MPS-III-B, Charcot-Marie-Tooth disease axonal type 2V
Health Risk
RS115550028
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease axonal type 2V, Mucopolysaccharidosis, MPS-III-B
Health Risk
RS115888189
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease axonal type 2V, Mucopolysaccharidosis, MPS-III-B
Health Risk
RS115994665
Conflicting classifications of pathogenicity
Mucopolysaccharidosis, MPS-III-B, Charcot-Marie-Tooth disease axonal type 2V
Health Risk
RS1181487342
Conflicting classifications of pathogenicity
Mucopolysaccharidosis, MPS-III-B, Charcot-Marie-Tooth disease axonal type 2V
Health Risk
RS1216052074
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease axonal type 2V, Mucopolysaccharidosis, MPS-III-B
Health Risk
RS1216280532
Conflicting classifications of pathogenicity
Mucopolysaccharidosis, MPS-III-B, Charcot-Marie-Tooth disease axonal type 2V
Health Risk
All Variants (279)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1195831432 | Health Risk | Pathogenic/Likely pathogenic | Mucopolysaccharidosis, MPS-III-B, Charcot-Marie-Tooth disease axonal type 2V |
| RS1215582852 | Health Risk | Pathogenic/Likely pathogenic | Mucopolysaccharidosis, MPS-III-B, Charcot-Marie-Tooth disease axonal type 2V |
| RS1244655820 | Health Risk | Pathogenic/Likely pathogenic | Sanfilippo syndrome, Mucopolysaccharidosis, MPS-III-B |
| RS1364203992 | Health Risk | Pathogenic/Likely pathogenic | Mucopolysaccharidosis, MPS-III-B, Charcot-Marie-Tooth disease axonal type 2V |
| RS1460260015 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Charcot-Marie-Tooth disease axonal type 2V, Mucopolysaccharidosis |
| RS147036053 | Health Risk | Pathogenic/Likely pathogenic | Mucopolysaccharidosis, MPS-III-B, Charcot-Marie-Tooth disease axonal type 2V |
| RS1555621454 | Health Risk | Pathogenic/Likely pathogenic | Mucopolysaccharidosis, MPS-III-B, Charcot-Marie-Tooth disease axonal type 2V |
| RS1555622488 | Health Risk | Pathogenic/Likely pathogenic | Mucopolysaccharidosis, MPS-III-B, Charcot-Marie-Tooth disease axonal type 2V |
| RS1567890245 | Health Risk | Pathogenic/Likely pathogenic | Mucopolysaccharidosis, MPS-III-B, Charcot-Marie-Tooth disease axonal type 2V |
| RS1599253805 | Health Risk | Pathogenic/Likely pathogenic | Mucopolysaccharidosis, MPS-III-B, Charcot-Marie-Tooth disease axonal type 2V |
| RS1884683982 | Health Risk | Pathogenic/Likely pathogenic | Mucopolysaccharidosis, MPS-III-B, Charcot-Marie-Tooth disease axonal type 2V |
| RS200909691 | Health Risk | Pathogenic/Likely pathogenic | Mucopolysaccharidosis, MPS-III-B, Charcot-Marie-Tooth disease axonal type 2V |
| RS2092905845 | Health Risk | Pathogenic/Likely pathogenic | Mucopolysaccharidosis, MPS-III-B, Charcot-Marie-Tooth disease axonal type 2V |
| RS2092906798 | Health Risk | Pathogenic/Likely pathogenic | Mucopolysaccharidosistype IIIB, Mucopolysaccharidosis, MPS-III-B |
| RS2092930339 | Health Risk | Pathogenic/Likely pathogenic | Charcot-Marie-Tooth disease axonal type 2V, Mucopolysaccharidosis, MPS-III-B |
| RS2143087145 | Health Risk | Pathogenic/Likely pathogenic | Mucopolysaccharidosis, MPS-III-B, Mucopolysaccharidosis |
| RS2143108228 | Health Risk | Pathogenic/Likely pathogenic | Charcot-Marie-Tooth disease axonal type 2V, Mucopolysaccharidosis, MPS-III-B |
| RS2510653397 | Health Risk | Pathogenic/Likely pathogenic | Mucopolysaccharidosis, MPS-III-B, Charcot-Marie-Tooth disease axonal type 2V |
| RS2510656611 | Health Risk | Pathogenic/Likely pathogenic | Mucopolysaccharidosis, MPS-III-B, Charcot-Marie-Tooth disease axonal type 2V |
| RS2510658575 | Health Risk | Pathogenic/Likely pathogenic | Charcot-Marie-Tooth disease axonal type 2V, Mucopolysaccharidosis, MPS-III-B |
| RS2510659172 | Health Risk | Pathogenic/Likely pathogenic | Charcot-Marie-Tooth disease axonal type 2V, Mucopolysaccharidosis, MPS-III-B |
| RS2510660046 | Health Risk | Pathogenic/Likely pathogenic | Mucopolysaccharidosis, MPS-III-B, Charcot-Marie-Tooth disease axonal type 2V |
| RS751203469 | Health Risk | Pathogenic/Likely pathogenic | Mucopolysaccharidosis, MPS-III-B, Charcot-Marie-Tooth disease axonal type 2V |
| RS758785463 | Health Risk | Pathogenic/Likely pathogenic | Mucopolysaccharidosis, MPS-III-B, Intellectual disability |
| RS763299645 | Health Risk | Pathogenic/Likely pathogenic | Mucopolysaccharidosis, MPS-III-B, Charcot-Marie-Tooth disease axonal type 2V |
| RS768814260 | Health Risk | Pathogenic/Likely pathogenic | Mucopolysaccharidosis, MPS-III-B, Charcot-Marie-Tooth disease axonal type 2V |
| RS796052122 | Health Risk | Pathogenic/Likely pathogenic | Charcot-Marie-Tooth disease axonal type 2V, Mucopolysaccharidosis, MPS-III-B |
| RS886043792 | Health Risk | Pathogenic/Likely pathogenic | Mucopolysaccharidosis, MPS-III-B, Charcot-Marie-Tooth disease axonal type 2V |
| RS992677795 | Health Risk | Pathogenic/Likely pathogenic | Mucopolysaccharidosis, MPS-III-B, Charcot-Marie-Tooth disease axonal type 2V |