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 |
|---|---|---|---|
| RS2510650286 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-III-B, Charcot-Marie-Tooth disease axonal type 2V |
| RS2510650548 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-III-B, Charcot-Marie-Tooth disease axonal type 2V |
| RS2510650554 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease axonal type 2V, Mucopolysaccharidosis, MPS-III-B |
| RS2510652165 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-III-B, Charcot-Marie-Tooth disease axonal type 2V |
| RS2510652171 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-III-B, Charcot-Marie-Tooth disease axonal type 2V |
| RS2510652219 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-III-B, Charcot-Marie-Tooth disease axonal type 2V |
| RS2510653230 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-III-B, Charcot-Marie-Tooth disease axonal type 2V |
| RS2510653303 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease axonal type 2V, Mucopolysaccharidosis, MPS-III-B |
| RS2510653834 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease axonal type 2V, Mucopolysaccharidosis, MPS-III-B |
| RS2510653897 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-III-B, Charcot-Marie-Tooth disease axonal type 2V |
| RS2510653907 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-III-B, Charcot-Marie-Tooth disease axonal type 2V |
| RS2510656344 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-III-B, Mucopolysaccharidosis |
| RS2510656745 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-III-B, Charcot-Marie-Tooth disease axonal type 2V |
| RS2510658578 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-III-B, Charcot-Marie-Tooth disease axonal type 2V |
| RS2510658609 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-III-B, Charcot-Marie-Tooth disease axonal type 2V |
| RS2510658779 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-III-B, Charcot-Marie-Tooth disease axonal type 2V |
| RS2510659075 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease axonal type 2V, Mucopolysaccharidosis, MPS-III-B |
| RS2510659337 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease axonal type 2V, Mucopolysaccharidosis, MPS-III-B |
| RS2510660121 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-III-B, Charcot-Marie-Tooth disease axonal type 2V |
| RS2510660141 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-III-B, Charcot-Marie-Tooth disease axonal type 2V |
| RS2510660968 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-III-B, Charcot-Marie-Tooth disease axonal type 2V |
| RS376090795 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-III-B, Charcot-Marie-Tooth disease axonal type 2V |
| RS398123281 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-III-B, Charcot-Marie-Tooth disease axonal type 2V |
| RS483352897 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-III-B, 8 conditions |
| RS527236037 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-III-B, Charcot-Marie-Tooth disease axonal type 2V |
| RS555145190 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-III-B, Charcot-Marie-Tooth disease axonal type 2V |
| RS727504028 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-III-B, Charcot-Marie-Tooth disease axonal type 2V |
| RS748042028 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-III-B, Charcot-Marie-Tooth disease axonal type 2V |
| RS749338526 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-III-B, Charcot-Marie-Tooth disease axonal type 2V |
| RS750741772 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease axonal type 2V, Mucopolysaccharidosis, MPS-III-B |
| RS752131463 | Health Risk | Pathogenic | Inborn genetic diseases, Mucopolysaccharidosis, MPS-III-B |
| RS753670246 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-III-B, Charcot-Marie-Tooth disease axonal type 2V |
| RS760370189 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-III-B, Charcot-Marie-Tooth disease axonal type 2V |
| RS762031686 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-III-B, Charcot-Marie-Tooth disease axonal type 2V |
| RS764134891 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-III-B, Charcot-Marie-Tooth disease axonal type 2V |
| RS766000735 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-III-B, Charcot-Marie-Tooth disease axonal type 2V |
| RS767510451 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-III-B, Mucopolysaccharidosis |
| RS778021009 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-III-B, Charcot-Marie-Tooth disease axonal type 2V |
| RS796052123 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease axonal type 2V, Mucopolysaccharidosis, MPS-III-B |
| RS797044751 | Health Risk | Pathogenic | — |
| RS879111128 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-III-B, Charcot-Marie-Tooth disease axonal type 2V |
| RS886039894 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-III-B, Charcot-Marie-Tooth disease axonal type 2V |
| RS886039895 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-III-B, Mucopolysaccharidosis |
| RS904672363 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-III-B, Charcot-Marie-Tooth disease axonal type 2V |
| RS104894592 | Health Risk | Pathogenic/Likely pathogenic | Mucopolysaccharidosis, MPS-III-B, Charcot-Marie-Tooth disease axonal type 2V |
| RS104894595 | Health Risk | Pathogenic/Likely pathogenic | Mucopolysaccharidosis, MPS-III-B, Charcot-Marie-Tooth disease axonal type 2V |
| RS104894598 | Health Risk | Pathogenic/Likely pathogenic | Mucopolysaccharidosis, MPS-III-B, Charcot-Marie-Tooth disease axonal type 2V |
| RS114625063 | Health Risk | Pathogenic/Likely pathogenic | Mucopolysaccharidosis, MPS-III-B, Mucopolysaccharidosistype IIIB |
| RS118204025 | Health Risk | Pathogenic/Likely pathogenic | Mucopolysaccharidosis, MPS-III-B, Charcot-Marie-Tooth disease axonal type 2V |
| RS1183634153 | Health Risk | Pathogenic/Likely pathogenic | Charcot-Marie-Tooth disease axonal type 2V, Mucopolysaccharidosis, MPS-III-B |