NAGLU
Sign in to saveAlso known as MPS-IIIB, MPS3B, NAG, UFHSD, CMT2V, N-acetyl-alpha-glucosaminidase
N-acetylglucosaminidase, alpha is a protein that in humans is encoded by the NAGLU gene.
Gene data
NAGLU- Name
- N-acetyl-alpha-glucosaminidase
- Type
- protein-coding
- Aliases
- CMT2V, MPS-IIIB, MPS3B, NAG, UFHSD
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].
via MyGene.info
Wikidata facts
Show 5 more facts
- HomoloGene ID
- 222
- exact match
- identifiers.org/ncbigene/4669
- genomic end
- 40696467
- genomic start
- 42536241
- cytogenetic location
- 17q21.2
via Wikidata · CC0
~1 min read
Article
4 sectionsContents
- Function
- Clinical significance
- References
- Further reading
N-acetylglucosaminidase, alpha is a protein that in humans is encoded by the NAGLU gene.
== Function ==
Connections
Q180686
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human chromosome 17
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Ensembl genome database project
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protein
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Wikidata
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gene
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chromosome
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public domain
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digital object identifier
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lysosome
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bibcode
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human genome
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Q229883
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base pair
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locus
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gene expression
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Online Mendelian Inheritance in Man
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United States National Library of Medicine
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Protein Data Bank
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Q22908627
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