N-Acetylglucosaminidase, Alpha-

Alternative Names

  • NAGLU
  • N-Acetyl-Alpha-D-Glucosaminidase
  • N-Acetyl-Alpha-Glucosaminidase
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OMIM Number

609701

NCBI Gene ID

4669

Uniprot ID

P54802

Length

10,212 bases

No. of Exons

7

No. of isoforms

1

Protein Name

Alpha-N-acetylglucosaminidase

Molecular Mass

82266 Da

Amino Acid Count

743

Genomic Location

chr17:42,534,237-42,544,448

Gene Map Locus
17q21.2

Description

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. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_000263.4:c.1694G>TUnited Arab EmiratesNC_000017.11:g.42543700G>TPathogenic, Uncertain SignificancePathogenicMucopolysaccharidosis Type IIIBNG_011552.1:g.12768G>T; NM_000263.4:c.1694G>T; NP_000254.2:p.Arg565Leu104894598557013
NM_000263.4:c.889C>TSaudi ArabiaNC_000017.11:g.42541074C>TLikely Pathogenic, PathogenicPathogenicMucopolysaccharidosis Type IIIBNG_011552.1:g.10142C>T; NM_000263.4:c.889C>T; NP_000254.2:p.Arg297Ter1048945921562
NM_000263.4:c.934G>AJordanNC_000017.11:g.42541119G>ALikely Pathogenic, Pathogenic, Uncertain SignificanceLikely PathogenicMucopolysaccharidosis Type IIIBNG_011552.1:g.10187G>A; NM_000263.4:c.934G>A; NP_000254.2:p.Asp312Asn1052471595437446
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