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NAGLU

From Wikipedia, the free encyclopedia
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; OMA:NAGLU - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_000263

NM_013792

RefSeq (protein)

NP_000254

NP_038820

Location (UCSC)Chr 17: 42.54 – 42.54 MbChr 11: 100.96 – 100.97 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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

Function

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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

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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

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000108784Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000001751Ensembl, 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. ^ a b "Entrez Gene: N-acetylglucosaminidase, alpha".

Further reading

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