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Literature summary for 3.1.6.12 extracted from

  • Litjens, T.; Brooks, D.A.; Peters, C.; Gibson, G.J.; Hopwood, J.J.
    Identification, expression, and biochemical characterization of N-acetylgalactosamine-4-sulfatase mutations and relationship with clinical phenotype in MPS-VI patients (1996), Am. J. Hum. Genet., 58, 1127-1134.
    View publication on PubMedView publication on EuropePMC
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Cloned(Commentary)

Cloned (Comment) Organism
expression in CHO cells Homo sapiens

Protein Variants

Protein Variants Comment Organism
H393P mutation in MPS IV patient Homo sapiens
L498P mutation in MPS IV patient Homo sapiens
R95Q mutation in MPS IV patient Homo sapiens
T92M mutation in MPS IV patient Homo sapiens
Y210C mutation in MPS IV patient Homo sapiens

Natural Substrates/ Products (Substrates)

Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
N-acetyl-D-galactosamine 4-sulfate units + H2O Homo sapiens acts also on N-acetylglucosamine 4-sulfate N-acetyl-D-galactosamine units + sulfate
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 ?

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
-
-

Source Tissue

Source Tissue Comment Organism Textmining
skin cultured fibroblasts Homo sapiens
-

Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
4-methylumbelliferyl sulfate + H2O
-
 Homo sapiens 4-methylumbelliferone + sulfate
-
 ?
N-acetyl-D-galactosamine 4-sulfate units + H2O acts also on N-acetylglucosamine 4-sulfate Homo sapiens N-acetyl-D-galactosamine units + sulfate
-
 ?