1fsu: Difference between revisions
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{{STRUCTURE_1fsu| PDB=1fsu | SCENE= }} | {{STRUCTURE_1fsu| PDB=1fsu | SCENE= }} | ||
===4-SULFATASE (HUMAN)=== | ===4-SULFATASE (HUMAN)=== | ||
{{ABSTRACT_PUBMED_9032078}} | |||
==Disease== | |||
[[http://www.uniprot.org/uniprot/ARSB_HUMAN ARSB_HUMAN]] Defects in ARSB are the cause of mucopolysaccharidosis type 6 (MPS6) [MIM:[http://omim.org/entry/253200 253200]]; also known as Maroteaux-Lamy syndrome. MPS6 is an autosomal recessive lysosomal storage disease characterized by intracellular accumulation of dermatan sulfate. Clinical features can include abnormal growth, short stature, stiff joints, skeletal malformations, corneal clouding, hepatosplenomegaly, and cardiac abnormalities. A wide variation in clinical severity is observed.<ref>PMID:1718978</ref><ref>PMID:1550123</ref><ref>PMID:8116615</ref><ref>PMID:8125475</ref><ref>PMID:8541342</ref><ref>PMID:8651289</ref><ref>PMID:10036316</ref><ref>PMID:10738004</ref><ref>PMID:11802522</ref><ref>PMID:14974081</ref> Arylsulfatase B activity is defective in multiple sulfatase deficiency (MSD) [MIM:[http://omim.org/entry/272200 272200]]. A clinically and biochemically heterogeneous disorder caused by the simultaneous impairment of all sulfatases, due to defective post-translational modification and activation. It combines features of individual sulfatase deficiencies such as metachromatic leukodystrophy, mucopolysaccharidosis, chondrodysplasia punctata, hydrocephalus, ichthyosis, neurologic deterioration and developmental delay. Note=Arylsulfatase B activity is impaired in multiple sulfatase deficiency due to mutations in SUMF1. SUMF1 mutations result in defective post-translational modification of ARSB at residue Cys-91 that is not converted to 3-oxoalanine.<ref>PMID:7628016</ref><ref>PMID:15146462</ref> | |||
==About this Structure== | ==About this Structure== | ||
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==Reference== | ==Reference== | ||
<ref group="xtra">PMID:009032078</ref><references group="xtra"/> | <ref group="xtra">PMID:009032078</ref><references group="xtra"/><references/> | ||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
[[Category: N-acetylgalactosamine-4-sulfatase]] | [[Category: N-acetylgalactosamine-4-sulfatase]] | ||
