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 |
|---|---|---|---|
| RS1024697806 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease axonal type 2V, Mucopolysaccharidosis, MPS-III-B |
| RS104894593 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis, MPS-III-B, Charcot-Marie-Tooth disease axonal type 2V |
| RS112751577 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis, MPS-III-B, Charcot-Marie-Tooth disease axonal type 2V |
| RS114605439 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis, MPS-III-B, Charcot-Marie-Tooth disease axonal type 2V |
| RS114687267 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis, MPS-III-B, Charcot-Marie-Tooth disease axonal type 2V |
| RS115401566 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis, MPS-III-B, Charcot-Marie-Tooth disease axonal type 2V |
| RS115550028 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease axonal type 2V, Mucopolysaccharidosis, MPS-III-B |
| RS115888189 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease axonal type 2V, Mucopolysaccharidosis, MPS-III-B |
| RS115994665 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis, MPS-III-B, Charcot-Marie-Tooth disease axonal type 2V |
| RS1181487342 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis, MPS-III-B, Charcot-Marie-Tooth disease axonal type 2V |
| RS1216052074 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease axonal type 2V, Mucopolysaccharidosis, MPS-III-B |
| RS1216280532 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis, MPS-III-B, Charcot-Marie-Tooth disease axonal type 2V |
| RS1276484671 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease axonal type 2V, Mucopolysaccharidosis, MPS-III-B |
| RS1347224658 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis, MPS-III-B, Charcot-Marie-Tooth disease axonal type 2V |
| RS138695961 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis, MPS-III-B, Charcot-Marie-Tooth disease axonal type 2V |
| RS140956564 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis, MPS-III-B, Charcot-Marie-Tooth disease axonal type 2V |
| RS143938936 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease axonal type 2V, Mucopolysaccharidosis, MPS-III-B |
| RS144238669 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease axonal type 2V, Mucopolysaccharidosis, MPS-III-B |
| RS145452809 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease axonal type 2V, Mucopolysaccharidosis, MPS-III-B |
| RS146438251 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease axonal type 2V, Mucopolysaccharidosis, MPS-III-B |
| RS147293270 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis, MPS-III-B, Charcot-Marie-Tooth disease axonal type 2V |
| RS150905331 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease axonal type 2V, Mucopolysaccharidosis, MPS-III-B |
| RS151013014 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis, MPS-III-B, Charcot-Marie-Tooth disease axonal type 2V |
| RS1567894363 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease axonal type 2V, Mucopolysaccharidosis, MPS-III-B |
| RS1599258487 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis, MPS-III-B, Charcot-Marie-Tooth disease axonal type 2V |
| RS1599260473 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis, MPS-III-B, Charcot-Marie-Tooth disease axonal type 2V |
| RS199729746 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, Mucopolysaccharidosis, MPS-III-B |
| RS200715586 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis, MPS-III-B, Charcot-Marie-Tooth disease axonal type 2V |
| RS202115696 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis, MPS-III-B, Charcot-Marie-Tooth disease axonal type 2V |
| RS2092909557 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis, MPS-III-B, Charcot-Marie-Tooth disease axonal type 2V |
| RS2143075651 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis, MPS-III-B, Charcot-Marie-Tooth disease axonal type 2V |
| RS2143108019 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis, MPS-III-B, Charcot-Marie-Tooth disease axonal type 2V |
| RS2143109259 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease axonal type 2V, Mucopolysaccharidosis, MPS-III-B |
| RS2510659057 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis, MPS-III-B, Charcot-Marie-Tooth disease axonal type 2V |
| RS2510659687 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis, MPS-III-B, Charcot-Marie-Tooth disease axonal type 2V |
| RS368521316 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis, MPS-III-B, Charcot-Marie-Tooth disease axonal type 2V |
| RS369789056 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis, MPS-III-B, Charcot-Marie-Tooth disease axonal type 2V |
| RS371656965 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis, MPS-III-B, Charcot-Marie-Tooth disease axonal type 2V |
| RS375661192 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis, MPS-III-B, Charcot-Marie-Tooth disease axonal type 2V |
| RS376545731 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis, MPS-III-B, Charcot-Marie-Tooth disease axonal type 2V |
| RS530062090 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis, MPS-III-B, Charcot-Marie-Tooth disease axonal type 2V |
| RS537078152 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis, MPS-III-B, Charcot-Marie-Tooth disease axonal type 2V |
| RS539019626 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis, MPS-III-B, Charcot-Marie-Tooth disease axonal type 2V |
| RS559674042 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis, MPS-III-B, Charcot-Marie-Tooth disease axonal type 2V |
| RS569519789 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease axonal type 2V, Mucopolysaccharidosis, MPS-III-B |
| RS746006696 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis, MPS-III-B, Charcot-Marie-Tooth disease axonal type 2V |
| RS749140168 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis, MPS-III-B, Charcot-Marie-Tooth disease axonal type 2V |
| RS752527478 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis, MPS-III-B, Charcot-Marie-Tooth disease axonal type 2V |
| RS753454744 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis, MPS-III-B, Charcot-Marie-Tooth disease axonal type 2V |
| RS759041924 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis, MPS-III-B, Charcot-Marie-Tooth disease axonal type 2V |