Literature summary for 2.3.1.78 extracted from

Feldhammer, M.; Durand, S.; Mrazova, L.; Boucher, R.M.; Laframboise, R.; Steinfeld, R.; Wraith, J.E.; Michelakakis, H.; van Diggelen, O.P.; Hrebicek, M.; Kmoch, S.; Pshezhetsky, A.V.
Sanfilippo syndrome type C: mutation spectrum in the heparan sulfate acetyl-CoA: alpha-glucosaminide N-acetyltransferase (HGSNAT) gene (2009), Hum. Mutat., 30, 918-925.

Application

Application	Comment	Organism
medicine	mucopolysaccharidosis type IIIC or Sanfilippo syndrome type C is an autosomal recessive disorder caused by deficiency of heparan sulfate acetyl-CoA:alpha-glucosaminide N-acetyltransferase	Homo sapiens

Protein Variants

Protein Variants	Comment	Organism
additional information	c.1-1925_118+296del, mutation, 2339-bp deletion including exon 1	Homo sapiens
additional information	c.1030C>T, missense mutation, predicted effect on protein, p.R344C	Homo sapiens
additional information	c.1209G>T, missense mutation, predicted effect on protein, p.W403C	Homo sapiens
additional information	c.1250+1G>A, splicing site mutation, intron 12	Homo sapiens
additional information	c.1250+2T>C, splicing site mutation, intron 12	Homo sapiens
additional information	c.1271dupG, mutation, predicted effect on protein, p.I425HfsX45	Homo sapiens
additional information	c.1411G>A, missense mutation, predicted effect on protein, p.E471K	Homo sapiens
additional information	c.1441G>T, polymorphism, predicted effect on protein, p.V481L	Homo sapiens
additional information	c.1457G>A, missense mutation, predicted effect on protein, p.G486E	Homo sapiens
additional information	c.1466C>A, missense mutation, predicted effect on protein, p.A489E	Homo sapiens
additional information	c.1516C>T, nonsense mutation, predicted effect on protein, p.R506X, premature termination codon	Homo sapiens
additional information	c.1542+4dupA, splicing site mutation, intron 15	Homo sapiens
additional information	c.1553C>T, missense mutation, predicted effect on protein, p.S518F	Homo sapiens
additional information	c.1622C>T, missense mutation, predicted effect on protein, p.S541L	Homo sapiens
additional information	c.1674C>G, nonsense mutation, predicted effect on protein, p.Y558X, premature termination codon	Homo sapiens
additional information	c.1843G>A, polymorphism, predicted effect on protein, p.A615T	Homo sapiens
additional information	c.410T>C, missense mutation, predicted effect on protein, p.L137P	Homo sapiens
additional information	c.493+1G>A, splicing site mutation, intron 4	Homo sapiens
additional information	c.641delG, mutation, predicted effect on protein, p.Gly214AspfsX62	Homo sapiens
additional information	c.739delA, mutation, predicted effect on protein, p.R247GfsX29	Homo sapiens
additional information	c.744-2A>G, splicing site mutation, intron 7	Homo sapiens
additional information	c.848C>T, missense mutation, predicted effect on protein, p.P283L	Homo sapiens
additional information	c.852-1G>A, splicing site mutation, intron 9	Homo sapiens
additional information	c.887C>A, nonsense mutation, predicted effect on protein, p.S296X, premature termination codon	Homo sapiens

Localization

Localization	Comment	Organism	GeneOntology No.	Textmining
lysosomal membrane	-	Homo sapiens	5765	-

Natural Substrates/ Products (Substrates)

Natural Substrates	Organism	Comment (Nat. Sub.)	Natural Products	Comment (Nat. Pro.)	Rev.	Reac.
acetyl-CoA + heparan sulfate alpha-D-glucosaminide	Homo sapiens	-	CoA + heparan sulfate N-acetyl-alpha-D-glucosaminide	-	?

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	-	-	-

Substrates and Products (Substrate)

Substrates	Comment Substrates	Organism	Products	Comment (Products)	Rev.	Reac.
acetyl-CoA + heparan sulfate alpha-D-glucosaminide	-	Homo sapiens	CoA + heparan sulfate N-acetyl-alpha-D-glucosaminide	-	?

Synonyms

Synonyms	Comment	Organism
heparan sulfate acetyl-CoA: alpha-glucosaminide N-acetyltransferase	-	Homo sapiens
HGSNAT	-	Homo sapiens

Cofactor

Cofactor	Comment	Organism	Structure
acetyl-CoA	-	Homo sapiens