HGSNAT

Protein-coding gene in the species Homo sapiens From Wikipedia, the free encyclopedia

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.[5][6][7]

AliasesHGSNAT, HGNAT, MPS3C, TMEM76, RP73, heparan-alpha-glucosaminide N-acetyltransferase
End43,202,855 bp[1]
Quick facts Identifiers, Aliases ...
HGSNAT
Identifiers
AliasesHGSNAT, HGNAT, MPS3C, TMEM76, RP73, heparan-alpha-glucosaminide N-acetyltransferase
External IDsOMIM: 610453; MGI: 1196297; HomoloGene: 15586; GeneCards: HGSNAT; OMA:HGSNAT - orthologs
Enzyme activity
EC #BRENDAExPASyKEGGMetaCyc
2.3.1.78
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_152419
NM_001363227
NM_001363228
NM_001363229
NM_025070

NM_029884
NM_133970

RefSeq (protein)

NP_689632
NP_001350156
NP_001350157
NP_001350158

NP_084160

Location (UCSC)Chr 8: 43.14 – 43.2 MbChr 8: 26.43 – 26.47 Mb
PubMed search[3][4]
Wikidata
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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.[6]

References

Further reading

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