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Literature summary for 2.3.1.78 extracted from

  • Hrebicek, M.; Mrazova, L.; Seyrantepe, V.; Durand, S.; Roslin, N.M.; 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, C.E.; Maire, I.; Poorthuis, B.J.; van de Kamp, J.
    Mutations in TMEM76* cause mucopolysaccharidosis IIIC (Sanfilippo C syndrome) (2006), Am. J. Hum. Genet., 79, 807-819.
    View publication on PubMedView publication on EuropePMC

Cloned(Commentary)

Cloned (Comment) Organism
-
Homo sapiens
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Mus musculus

Localization

Localization Comment Organism GeneOntology No. Textmining
lysosome
-
Homo sapiens 5764
-
lysosome
-
Mus musculus 5764
-

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 mucopolysaccharidosis IIIC (MPS IIIC, or Sanfilippo C syndrome) is a lysosomal storage disorder caused by the inherited deficiency of the lysosomal membrane enzyme acetyl-coenzyme A:alpha-glucosaminide N-acetyltransferase, which leads to impaired degradation of heparan sulfate. Structural protein that transports the activated acetyl residues across the cell membrane CoA + heparan sulfate N-acetyl-alpha-D-glucosaminide
-
?
acetyl-CoA + heparan sulfate alpha-D-glucosaminide Mus musculus mucopolysaccharidosis IIIC (MPS IIIC, or Sanfilippo C syndrome) is a lysosomal storage disorder caused by the inherited deficiency of the lysosomal membrane enzyme acetyl-coenzyme A:alpha-glucosaminide N-acetyltransferase, which leads to impaired degradation of heparan sulfate. Structural protein that transports the activated acetyl residues across the cell membrane CoA + heparan sulfate N-acetyl-alpha-D-glucosaminide
-
?

Organism

Organism UniProt Comment Textmining
Homo sapiens Q68CP4
-
-
Mus musculus Q3UDW8
-
-

Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
acetyl-CoA + 4-methylumbelliferyl-alpha-D-glucosaminide
-
Homo sapiens CoA + 4-methylumbelliferyl-N-acetyl-alpha-D-glucosaminide
-
?
acetyl-CoA + 4-methylumbelliferyl-alpha-D-glucosaminide
-
Mus musculus CoA + 4-methylumbelliferyl-N-acetyl-alpha-D-glucosaminide
-
?
acetyl-CoA + heparan sulfate alpha-D-glucosaminide
-
Homo sapiens CoA + heparan sulfate N-acetyl-alpha-D-glucosaminide
-
?
acetyl-CoA + heparan sulfate alpha-D-glucosaminide
-
Mus musculus CoA + heparan sulfate N-acetyl-alpha-D-glucosaminide
-
?
acetyl-CoA + heparan sulfate alpha-D-glucosaminide mucopolysaccharidosis IIIC (MPS IIIC, or Sanfilippo C syndrome) is a lysosomal storage disorder caused by the inherited deficiency of the lysosomal membrane enzyme acetyl-coenzyme A:alpha-glucosaminide N-acetyltransferase, which leads to impaired degradation of heparan sulfate. Structural protein that transports the activated acetyl residues across the cell membrane Homo sapiens CoA + heparan sulfate N-acetyl-alpha-D-glucosaminide
-
?
acetyl-CoA + heparan sulfate alpha-D-glucosaminide mucopolysaccharidosis IIIC (MPS IIIC, or Sanfilippo C syndrome) is a lysosomal storage disorder caused by the inherited deficiency of the lysosomal membrane enzyme acetyl-coenzyme A:alpha-glucosaminide N-acetyltransferase, which leads to impaired degradation of heparan sulfate. Structural protein that transports the activated acetyl residues across the cell membrane Mus musculus CoA + heparan sulfate N-acetyl-alpha-D-glucosaminide
-
?

Synonyms

Synonyms Comment Organism
acetyl-coenzyme A:alpha-glucosaminide N-acetyltransferase
-
Mus musculus
acetyl–coenzyme A:alpha-glucosaminide N-acetyltransferase
-
Homo sapiens
TMEM76
-
Homo sapiens
transmembrane protein 76
-
Homo sapiens
transmembrane protein 76
-
Mus musculus