NAGLU

N-acetylglucosaminidase, alpha is a protein that in humans is encoded by the NAGLU gene.[5]

NAGLU
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesNAGLU, MPS-IIIB, MPS3B, NAG, UFHSD, CMT2V, N-acetyl-alpha-glucosaminidase
External IDsOMIM: 609701 MGI: 1351641 HomoloGene: 222 GeneCards: NAGLU
Gene location (Human)
Chr.Chromosome 17 (human)[1]
Band17q21.2Start42,536,241 bp[1]
End42,544,449 bp[1]
Orthologs
SpeciesHumanMouse
Entrez

4669

27419

Ensembl

ENSG00000108784

ENSMUSG00000001751

UniProt

P54802

O88325

RefSeq (mRNA)

NM_000263

NM_013792

RefSeq (protein)

NP_000254

NP_038820

Location (UCSC)Chr 17: 42.54 – 42.54 MbChr 11: 101.07 – 101.08 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Function

This gene encodes an enzyme that degrades heparan sulfate by hydrolysis of terminal N-acetyl-D-glucosamine residues in N-acetyl-alpha-D-glucosaminides.

Clinical significance

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.[5]

References

  1. GRCh38: Ensembl release 89: ENSG00000108784 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000001751 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. "Entrez Gene: N-acetylglucosaminidase, alpha".

Further reading

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

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