NAGLU

GENE INFORMATION

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Gene name

NAGLU (HGNC Symbol)

Synonyms

NAG

Description

N-acetylglucosaminidase, alpha (HGNC Symbol)

Entrez gene 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]

Chromosome

17

Cytoband

q21.2

Chromosome location (bp)

42536172 - 42544449

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000108784 (version 78.38)

Entrez gene

4669

UniProt

P54802 (UniProt - Evidence at protein level)

neXtProt

NX_P54802

Antibodypedia

NAGLU antibodies
 

PROTEIN VIEW

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NAGLU-001
 
NAGLU-002
 
NAGLU-003
 
NAGLU-004
 
NAGLU-005
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

NAGLU-001 ENSP00000225927
ENST00000225927
P54802
Show all »
Show » Show » 743 82.3 Yes 0
NAGLU-002 ENSP00000467836
ENST00000591587
K7EQH9
Show all »
Show » 122 13.2 Yes 0
NAGLU-003 ENSP00000466892
ENST00000590358
K7END1
Show all »
Show » 81 9.5 No 0
NAGLU-004 ENSP00000467135
ENST00000586516
Show » 170 18.5 Yes 0
NAGLU-005 ENSP00000468665
ENST00000592454
Show » 65 6.5 No 0