NAGLU

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

NAGLU
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 4XWH
Identifiers
Aliases	NAGLU, MPS-IIIB, MPS3B, NAG, UFHSD, CMT2V, N-acetyl-alpha-glucosaminidase
External IDs	OMIM: 609701; MGI: 1351641; HomoloGene: 222; GeneCards: NAGLU; OMA:NAGLU - orthologs
Gene location (Human) Chr. Chromosome 17 (human)[1] Band 17q21.2 Start 42,536,241 bp[1] End 42,544,449 bp[1]
Gene location (Mouse) Chr. Chromosome 11 (mouse)[2] Band 11|11 D Start 100,960,838 bp[2] End 100,968,498 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in stromal cell of endometrium body of pancreas gastric mucosa right lobe of liver thoracic aorta ascending aorta right lobe of thyroid gland right adrenal cortex left adrenal gland Descending thoracic aorta Top expressed in right kidney spermatocyte decidua stroma of bone marrow proximal tubule calvaria gastrula spermatid choroid plexus of fourth ventricle epithelium of lens More reference expression data BioGPS n/a
Gene ontology Molecular function alpha-N-acetylglucosaminidase activity hydrolase activity hydrolase activity, acting on glycosyl bonds Cellular component lysosome lysosomal lumen extracellular exosome Biological process metabolism inner ear receptor cell development lysosome organization glycosaminoglycan catabolic process retinal rod cell development cerebellar Purkinje cell layer development nervous system development middle ear morphogenesis locomotor rhythm Sources:Amigo / QuickGO
Orthologs Species Human Mouse 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 Mb Chr 11: 100.96 – 100.97 Mb PubMed search [3] [4]
Wikidata
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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]