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 |
|---|---|---|---|
| RS764815033 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis, MPS-III-B, Charcot-Marie-Tooth disease axonal type 2V |
| RS770684838 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis, MPS-III-B, Charcot-Marie-Tooth disease axonal type 2V |
| RS771560656 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis, MPS-III-B, Charcot-Marie-Tooth disease axonal type 2V |
| RS774687078 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease axonal type 2V, Mucopolysaccharidosis, MPS-III-B |
| RS774971794 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis, MPS-III-B, Charcot-Marie-Tooth disease axonal type 2V |
| RS777670507 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis, MPS-III-B, Charcot-Marie-Tooth disease axonal type 2V |
| RS794726880 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease axonal type 2V, Mucopolysaccharidosis, MPS-III-B |
| RS868244206 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis, MPS-III-B, Charcot-Marie-Tooth disease axonal type 2V |
| RS886042073 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosistype IIIB, Mucopolysaccharidosis, MPS-III-B |
| RS904118831 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis, MPS-III-B, Mucopolysaccharidosis |
| RS104894590 | Health Risk | Likely pathogenic | Mucopolysaccharidosis, MPS-III-B, Charcot-Marie-Tooth disease axonal type 2V |
| RS104894600 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease axonal type 2V, Mucopolysaccharidosis, MPS-III-B |
| RS104894601 | Health Risk | Likely pathogenic | Mucopolysaccharidosis, MPS-III-B, Charcot-Marie-Tooth disease axonal type 2V |
| RS1052471595 | Health Risk | Likely pathogenic | Mucopolysaccharidosis, MPS-III-B, Inborn genetic diseases |
| RS1209988199 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease axonal type 2V, Mucopolysaccharidosis, MPS-III-B |
| RS1246249632 | Health Risk | Likely pathogenic | Mucopolysaccharidosis, MPS-III-B, Charcot-Marie-Tooth disease axonal type 2V |
| RS1270564492 | Health Risk | Likely pathogenic | Mucopolysaccharidosis, MPS-III-B, Mucopolysaccharidosis |
| RS1305299665 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease axonal type 2V, Mucopolysaccharidosis, MPS-III-B |
| RS1334949550 | Health Risk | Likely pathogenic | — |
| RS1335776131 | Health Risk | Likely pathogenic | Mucopolysaccharidosis, MPS-III-B, Charcot-Marie-Tooth disease axonal type 2V |
| RS1379877908 | Health Risk | Likely pathogenic | Mucopolysaccharidosis, MPS-III-B, Charcot-Marie-Tooth disease axonal type 2V |
| RS1396150639 | Health Risk | Likely pathogenic | Mucopolysaccharidosis, MPS-III-B, Mucopolysaccharidosis |
| RS1447465424 | Health Risk | Likely pathogenic | Mucopolysaccharidosis, MPS-III-B, Mucopolysaccharidosis |
| RS1480640960 | Health Risk | Likely pathogenic | — |
| RS1488695477 | Health Risk | Likely pathogenic | Mucopolysaccharidosis, MPS-III-B, Charcot-Marie-Tooth disease axonal type 2V |
| RS1555621402 | Health Risk | Likely pathogenic | Mucopolysaccharidosis, MPS-III-B, Mucopolysaccharidosis |
| RS1555622000 | Health Risk | Likely pathogenic | Mucopolysaccharidosis, MPS-III-B, Mucopolysaccharidosis |
| RS1555622250 | Health Risk | Likely pathogenic | Mucopolysaccharidosis, MPS-III-B, Mucopolysaccharidosis |
| RS1555622351 | Health Risk | Likely pathogenic | Mucopolysaccharidosis, MPS-III-B, Mucopolysaccharidosis |
| RS1555622354 | Health Risk | Likely pathogenic | Mucopolysaccharidosis, MPS-III-B, Mucopolysaccharidosis |
| RS1555622443 | Health Risk | Likely pathogenic | Mucopolysaccharidosis, MPS-III-B, Mucopolysaccharidosis |
| RS1555622505 | Health Risk | Likely pathogenic | Mucopolysaccharidosis, MPS-III-B, Mucopolysaccharidosis |
| RS1555622533 | Health Risk | Likely pathogenic | Mucopolysaccharidosis, MPS-III-B, Mucopolysaccharidosis |
| RS1555622545 | Health Risk | Likely pathogenic | Mucopolysaccharidosis, MPS-III-B, Mucopolysaccharidosis |
| RS1555622559 | Health Risk | Likely pathogenic | Mucopolysaccharidosis, MPS-III-B, Mucopolysaccharidosis |
| RS1567891258 | Health Risk | Likely pathogenic | Mucopolysaccharidosis, MPS-III-B, Mucopolysaccharidosis |
| RS1567893399 | Health Risk | Likely pathogenic | Mucopolysaccharidosis, MPS-III-B, Mucopolysaccharidosis |
| RS1599255987 | Health Risk | Likely pathogenic | Mucopolysaccharidosis, MPS-III-B, Mucopolysaccharidosis |
| RS2092905757 | Health Risk | Likely pathogenic | — |
| RS2092909477 | Health Risk | Likely pathogenic | Mucopolysaccharidosis, MPS-III-B, Charcot-Marie-Tooth disease axonal type 2V |
| RS2092909726 | Health Risk | Likely pathogenic | Mucopolysaccharidosis, MPS-III-B, Mucopolysaccharidosis |
| RS2092912895 | Health Risk | Likely pathogenic | Mucopolysaccharidosis, MPS-III-B, Mucopolysaccharidosis |
| RS2092914076 | Health Risk | Likely pathogenic | Mucopolysaccharidosis, MPS-III-B, Charcot-Marie-Tooth disease axonal type 2V |
| RS2092925480 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease axonal type 2V, Mucopolysaccharidosis, MPS-III-B |
| RS2092926516 | Health Risk | Likely pathogenic | — |
| RS2092928624 | Health Risk | Likely pathogenic | Mucopolysaccharidosis, MPS-III-B, Charcot-Marie-Tooth disease axonal type 2V |
| RS2143076634 | Health Risk | Likely pathogenic | Mucopolysaccharidosis, MPS-III-B, Mucopolysaccharidosis |
| RS2143086378 | Health Risk | Likely pathogenic | Mucopolysaccharidosis, MPS-III-B, Charcot-Marie-Tooth disease axonal type 2V |
| RS2143099180 | Health Risk | Likely pathogenic | Mucopolysaccharidosis, MPS-III-B, Charcot-Marie-Tooth disease axonal type 2V |
| RS2143099421 | Health Risk | Likely pathogenic | — |