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NAGLU N-acetyl-alpha-glucosaminidase

Also known as: NAG; CMT2V; MPS3B; UFHSD; MPS-IIIB

Summary

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]

Associated conditions

See all available tests in GTR for this gene

DescriptionTests
Charcot-Marie-Tooth disease, axonal type 2V
MedGen: CN231733OMIM: 616491GeneReviews: Not available
See labs
Mucopolysaccharidosis, MPS-III-B
MedGen: C0086648OMIM: 252920GeneReviews: Not available
See labs

Genomic context

Location:
17q21.2
Sequence:
Chromosome: 17; NC_000017.11 (42535933..42544449)
Total number of exons:
6

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