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 |
|---|---|---|---|
| RS1383530983 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-III-B, Charcot-Marie-Tooth disease axonal type 2V |
| RS138387856 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-III-B, Charcot-Marie-Tooth disease axonal type 2V |
| RS1430122594 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-III-B, Mucopolysaccharidosis |
| RS1431589133 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-III-B, Charcot-Marie-Tooth disease axonal type 2V |
| RS1445294968 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-III-B, Charcot-Marie-Tooth disease axonal type 2V |
| RS1452185692 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-III-B, Charcot-Marie-Tooth disease axonal type 2V |
| RS1453761645 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-III-B, Charcot-Marie-Tooth disease axonal type 2V |
| RS1460796923 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-III-B, Charcot-Marie-Tooth disease axonal type 2V |
| RS1485628563 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-III-B, Charcot-Marie-Tooth disease axonal type 2V |
| RS148881970 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-III-B, Charcot-Marie-Tooth disease axonal type 2V |
| RS1555621397 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-III-B, Charcot-Marie-Tooth disease axonal type 2V |
| RS1555621432 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-III-B, Charcot-Marie-Tooth disease axonal type 2V |
| RS1555621442 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-III-B, Charcot-Marie-Tooth disease axonal type 2V |
| RS1555621448 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-III-B, Charcot-Marie-Tooth disease axonal type 2V |
| RS1555622002 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-III-B, Charcot-Marie-Tooth disease axonal type 2V |
| RS1555622019 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-III-B, Charcot-Marie-Tooth disease axonal type 2V |
| RS1555622242 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-III-B, Charcot-Marie-Tooth disease axonal type 2V |
| RS1555622441 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-III-B, Mucopolysaccharidosis |
| RS1567890328 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-III-B, Charcot-Marie-Tooth disease axonal type 2V |
| RS1599253815 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-III-B, Mucopolysaccharidosis |
| RS2092906340 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease axonal type 2V, Mucopolysaccharidosis, MPS-III-B |
| RS2092906864 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease axonal type 2V, Mucopolysaccharidosis, MPS-III-B |
| RS2092912932 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease axonal type 2V, Mucopolysaccharidosis, MPS-III-B |
| RS2092920511 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-III-B, Charcot-Marie-Tooth disease axonal type 2V |
| RS2092925958 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease axonal type 2V, Mucopolysaccharidosis, MPS-III-B |
| RS2092926507 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-III-B, Charcot-Marie-Tooth disease axonal type 2V |
| RS2092928057 | Health Risk | Pathogenic | — |
| RS2092930484 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease axonal type 2V, Mucopolysaccharidosis, MPS-III-B |
| RS2143074939 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease axonal type 2V, Mucopolysaccharidosis, MPS-III-B |
| RS2143075344 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-III-B, Charcot-Marie-Tooth disease axonal type 2V |
| RS2143075470 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-III-B, Charcot-Marie-Tooth disease axonal type 2V |
| RS2143075902 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-III-B, Charcot-Marie-Tooth disease axonal type 2V |
| RS2143076561 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-III-B, Charcot-Marie-Tooth disease axonal type 2V |
| RS2143076795 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease axonal type 2V, Mucopolysaccharidosis, MPS-III-B |
| RS2143077277 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-III-B, Charcot-Marie-Tooth disease axonal type 2V |
| RS2143082104 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease axonal type 2V, Mucopolysaccharidosis, MPS-III-B |
| RS2143082538 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease axonal type 2V, Mucopolysaccharidosis, MPS-III-B |
| RS2143086665 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-III-B, Charcot-Marie-Tooth disease axonal type 2V |
| RS2143086826 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease axonal type 2V, Mucopolysaccharidosis, MPS-III-B |
| RS2143086910 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease axonal type 2V, Mucopolysaccharidosis, MPS-III-B |
| RS2143088088 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease axonal type 2V, Mucopolysaccharidosis, MPS-III-B |
| RS2143097772 | Health Risk | Pathogenic | — |
| RS2143099555 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease axonal type 2V, Mucopolysaccharidosis, MPS-III-B |
| RS2143109467 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease axonal type 2V, Mucopolysaccharidosis, MPS-III-B |
| RS2143110493 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease axonal type 2V, Mucopolysaccharidosis, MPS-III-B |
| RS2143111795 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-III-B, Charcot-Marie-Tooth disease axonal type 2V |
| RS2143113566 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-III-B, Charcot-Marie-Tooth disease axonal type 2V |
| RS2143113857 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-III-B, Charcot-Marie-Tooth disease axonal type 2V |
| RS2510649581 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-III-B, Charcot-Marie-Tooth disease axonal type 2V |
| RS2510649972 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease axonal type 2V, Mucopolysaccharidosis, MPS-III-B |