HGSNAT

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HGSNAT
Identifiers
Aliases HGSNAT, HGNAT, MPS3C, TMEM76, RP73, heparan-alpha-glucosaminide N-acetyltransferase
External IDs MGI: 1196297 HomoloGene: 15586 GeneCards: 138050
RNA expression pattern
PBB GE HGSNAT 218017 s at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_152419

NM_029884
NM_133970

RefSeq (protein)

NP_689632.2

NP_084160.1

Location (UCSC) Chr 8: 43.14 – 43.2 Mb Chr 8: 25.94 – 25.98 Mb
PubMed search [1] [2]
Wikidata
View/Edit Human View/Edit Mouse
heparan-alpha-glucosaminide N-acetyltransferase
Identifiers
EC number 2.3.1.78
CAS number 79955-83-2
Databases
IntEnz IntEnz view
BRENDA BRENDA entry
ExPASy NiceZyme view
KEGG KEGG entry
MetaCyc metabolic pathway
PRIAM profile
PDB structures RCSB PDB PDBe PDBsum
Gene Ontology AmiGO / EGO

Heparan-α-glucosaminide N-acetyltransferase (also called "acetyl-CoA:heparan-α-D-glucosaminide N-acetyltransferase" and "acetyl-CoA:alpha-glucosaminide N-acetyltransferase") is an enzyme that in humans is encoded by the HGSNAT gene.[1][2][3]

In enzymology, this enzyme belongs to the family of transferases, specifically those acyltransferases transferring groups other than aminoacyl groups. It is catalysed in the chemical reaction:

acetyl-CoA + heparan sulfate α-D-glucosaminide CoA + heparan sulfate N-acetyl-α-D-glucosaminide

This enzyme participates in glycosaminoglycan degradation and glycan structures degradation. Mutations in the gene encoding this enzyme cause mucopolysaccharidosis IIIC.[2]

References[edit]

  1. ^ Hrebicek M, Mrazova L, Seyrantepe V, Durand S, Roslin NM, Noskova L, Hartmannova H, Ivanek R, Cizkova A, Poupetova H, Sikora J, Urinovska J, Stranecky V, Zeman J, Lepage P, Roquis D, Verner A, Ausseil J, Beesley CE, Maire I, Poorthuis BJ, van de Kamp J, van Diggelen OP, Wevers RA, Hudson TJ, Fujiwara TM, Majewski J, Morgan K, Kmoch S, Pshezhetsky AV (Oct 2006). "Mutations in TMEM76* cause mucopolysaccharidosis IIIC (Sanfilippo C syndrome)". Am J Hum Genet 79 (5): 807–19. doi:10.1086/508294. PMC 1698556. PMID 17033958. 
  2. ^ a b Fan X, Zhang H, Zhang S, Bagshaw RD, Tropak MB, Callahan JW, Mahuran DJ (Sep 2006). "Identification of the gene encoding the enzyme deficient in mucopolysaccharidosis IIIC (Sanfilippo disease type C)". Am J Hum Genet 79 (4): 738–44. doi:10.1086/508068. PMC 1592569. PMID 16960811. 
  3. ^ "Entrez Gene: HGSNAT heparan-alpha-glucosaminide N-acetyltransferase". 

Further reading[edit]