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.
In the Vinony graph
Vinony's link graph records 8 inbound references to NAGLU, and connects out to PubMed, human chromosome 17 and Ensembl genome database project.
It is catalogued under the topic Genes on human chromosome 17.
Vinony links it to 6 Wikipedia language editions.
Gene data
NAGLU- Name
- N-acetyl-alpha-glucosaminidase
- Type
- protein-coding
- Position
- 42,536,216–42,544,449 (+)
- Aliases
- CMT2V, MPS-IIIB, MPS3B, NAG, UFHSD
- Ensembl
- ENSG00000108784
- RefSeq RNA
- NM_000263.4, XM_017024687.2, XM_024450771.2, XM_047436138.1, XM_047436139.1
- RefSeq protein
- NP_000254.2, XP_016880176.1, XP_024306539.1, XP_047292094.1, XP_047292095.1
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].
Gene Ontology
Biological process
Molecular function
Pathways
via MyGene.info
Gene · Ensembl
N-acetyl-alpha-glucosaminidase
- Symbol
- NAGLU
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 17:42,536,216-42,544,449
- Strand
- Forward (+)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
Wikidata facts
- Instance of
- gene
Show 8 more facts
- HomoloGene ID
- 222
- found in taxon
- Homo sapiens
- exact match
- identifiers.org/ncbigene/4669
- genomic end
- 40696467
- genomic start
- 42536241
- chromosome
- human chromosome 17
- cytogenetic location
- 17q21.2
- genetic association
- Sanfilippo syndrome
via Wikidata · CC0
~1 min read
Encyclopedic overview
4 sectionsContents
- Function
- Clinical significance
- References
- Further reading
N-acetylglucosaminidase, alpha is a protein that in humans is encoded by the NAGLU gene.
== Function ==
Excerpted from Wikipedia’s “NAGLU” article, available under the CC BY-SA 4.0 licence.