Literature summary for 3.1.6.12 extracted from

Bradford, T.M.; Litjens, T.; Parkinson, E.J.; Hopwood, J.J.; Brooks, D.A.
Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome): a Y210C mutation causes either altered protein handling or altered protein function of N-acetylgalactosamine 4-sulfatase at multiple points in the vacuolar network (2002), Biochemistry, 41, 4962-4971.

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Cloned(Commentary)

Cloned (Comment)	Organism
mutant protein Y210C is expressed in CHO-K1 cells	Homo sapiens

Protein Variants

Protein Variants	Comment	Organism
Y210C	the enzyme is synthesized at a comparable molecular size and amount to wild-type enzyme. 33% of the intracellular Y210C mutant enzyme remains as a precursor form, for at least 8 h post labeling and is not processed to the mature lysosomal form. A significant amount of the mutant enzyme escapes the endoplasmic reticulum and is either secreted from the expression cells or underwent delayed intracellular traffic. The mutant enzyme is inactivated and degraded at an enhanced rate in the lysosomal compartment	Homo sapiens

Localization

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

Natural Substrates/ Products (Substrates)

Natural Substrates	Organism	Comment (Nat. Sub.)	Natural Products	Comment (Nat. Pro.)	Rev.	Reac.
additional information	Homo sapiens	the enzyme is required for the degradation of the glycosaminoglycan substrates dermatan and chondroitin sulfate. A 4-sulfatase deficiency results in the accumulation of undegraded substrate and causes the severe lysosomal storage disorder mucopolysaccharidosis type VI or Maroteaux-Lamy syndrome. A wide variation in clinical severity is observed between MPS VI patients and reflects the number of different 4-sulfatase mutations that can cause the disorder.Y210C is detected in about 10% of the MPS VI patients	?	-	?

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	-	mutant enzyme Y210C detected in 10% of the patients with mucopolysaccharidosis type VI	-

Posttranslational Modification

Posttranslational Modification	Comment	Organism
proteolytic modification	33% of the intracellular Y210C mutant enzyme remains as a precursor form, for at least 8 h post labeling and is not processed to the mature lysosomal form. A significant amount of the mutant enzyme escapes the endoplasmic reticulum and is either secreted from the expression cells or undergoes delayed intracellular traffic. 67% of the intracellular Y210C mutant enzyme is processed to the mature form by a proteolytic processing step known to occur in lysosomes	Homo sapiens

Source Tissue

Source Tissue	Comment	Organism	Textmining
skin fibroblast	-	Homo sapiens	-

Substrates and Products (Substrate)

Substrates	Comment Substrates	Organism	Products	Comment (Products)	Rev.	Reac.
additional information	the enzyme is required for the degradation of the glycosaminoglycan substrates dermatan and chondroitin sulfate. A 4-sulfatase deficiency results in the accumulation of undegraded substrate and causes the severe lysosomal storage disorder mucopolysaccharidosis type VI or Maroteaux-Lamy syndrome. A wide variation in clinical severity is observed between MPS VI patients and reflects the number of different 4-sulfatase mutations that can cause the disorder.Y210C is detected in about 10% of the MPS VI patients	Homo sapiens	?	-	?

pH Optimum

pH Optimum Minimum	pH Optimum Maximum	Comment	Organism
5.3	-	wild-type and mutant enzyme	Homo sapiens

pH Range

pH Minimum	pH Maximum	Comment	Organism
3.9	6.1	pH 3.9: about 40% of maximal activity, wild-type enzyme, pH 6.1: about 45% of maximal activity, wild-type enzyme. pH 3.9: about 40% of maximal activity, mutant enzyme Y210C, pH 6.1: about 45% of maximal activity, mutant enzyme Y210C	Homo sapiens

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Release 2023.1 (January 2023)