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GeneQ18050708· pop 8· linked from 298 articles

HGSNAT

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Also known as HGNAT, MPS3C, TMEM76, RP73, heparan-alpha-glucosaminide N-acetyltransferase

'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.

Gene data

HGSNAT
Name
heparan-alpha-glucosaminide N-acetyltransferase
Type
protein-coding
Position
43,140,374–43,202,855 (+)
Aliases
HGNAT, MPS3C, RP73, TMEM76
Ensembl
ENSG00000165102
RefSeq RNA
NM_001363227.2, NM_001363228.2, NM_001363229.2, NM_025070.1, NM_152419.3
RefSeq protein
NP_001350156.1, NP_001350157.1, NP_001350158.1, NP_689632.2, XP_005273466.1

This gene encodes a lysosomal acetyltransferase, which is one of several enzymes involved in the lysosomal degradation of heparin sulfate. Mutations in this gene are associated with Sanfilippo syndrome C, one type of the lysosomal storage disease mucopolysaccaridosis III, which results from impaired degradation of heparan sulfate. [provided by RefSeq, Jan 2009].

Gene Ontology

Pathways

Glycosaminoglycan degradation - Homo sapiens (human)Lysosome - Homo sapiens (human)MetabolismGlycosaminoglycan metabolismHeparan sulfate/heparin (HS-GAG) metabolismDiseaseInnate Immune SystemImmune SystemHS-GAG degradationMucopolysaccharidoses

via MyGene.info

Gene · Ensembl

heparan-alpha-glucosaminide N-acetyltransferase

Symbol
HGSNAT
Biotype
Protein coding
Organism
Homo sapiens
Location
8:43,140,374-43,202,855
Strand
Forward (+)
Assembly
GRCh38
View on Ensembl →

via Ensembl · EMBL-EBI

~1 min read

Encyclopedic overview

2 sections
Contents
  • References
  • Further reading

'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.

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

Excerpted from Wikipedia’s “HGSNAT” article, available under the CC BY-SA 4.0 licence.

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