2afy: Difference between revisions
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{{STRUCTURE_2afy| PDB=2afy | SCENE= }} | {{STRUCTURE_2afy| PDB=2afy | SCENE= }} | ||
===Formylglycine generating enzyme C341S mutant=== | |||
{{ABSTRACT_PUBMED_16368756}} | |||
== | ==Disease== | ||
[[http://www.uniprot.org/uniprot/SUMF1_HUMAN SUMF1_HUMAN]] Defects in SUMF1 are the cause of multiple sulfatase deficiency (MSD) [MIM:[http://omim.org/entry/272200 272200]]. MSD is 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. Inheritance is autosomal recessive.<ref>PMID:12757706</ref><ref>PMID:12757705</ref><ref>PMID:15146462</ref><ref>PMID:18157819</ref> | |||
==Function== | |||
[[http://www.uniprot.org/uniprot/SUMF1_HUMAN SUMF1_HUMAN]] Using molecular oxygen and an unidentified reducing agent, oxidizes a cysteine residue in the substrate sulfatase to an active site 3-oxoalanine residue, which is also called C(alpha)-formylglycine. Known substrates include GALNS, ARSA, STS and ARSE.<ref>PMID:12757706</ref><ref>PMID:15657036</ref> | |||
==About this Structure== | ==About this Structure== | ||
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==Reference== | ==Reference== | ||
<ref group="xtra">PMID:016368756</ref><references group="xtra"/> | <ref group="xtra">PMID:016368756</ref><references group="xtra"/><references/> | ||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
[[Category: Roeser, D.]] | [[Category: Roeser, D.]] | ||
