2hrc: Difference between revisions
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{{STRUCTURE_2hrc| PDB=2hrc | SCENE= }} | {{STRUCTURE_2hrc| PDB=2hrc | SCENE= }} | ||
===1.7 angstrom structure of human ferrochelatase variant R115L=== | |||
{{ABSTRACT_PUBMED_17261801}} | |||
=== | ==Disease== | ||
[[http://www.uniprot.org/uniprot/HEMH_HUMAN HEMH_HUMAN]] Defects in FECH are the cause of erythropoietic protoporphyria (EPP) [MIM:[http://omim.org/entry/177000 177000]]. Porphyrias are inherited defects in the biosynthesis of heme, resulting in the accumulation and increased excretion of porphyrins or porphyrin precursors. They are classified as erythropoietic or hepatic, depending on whether the enzyme deficiency occurs in red blood cells or in the liver. EPP is a form of porphyria marked by excessive protoporphyrin in erythrocytes, plasma, liver and feces, and by widely varying photosensitive skin changes ranging from a burning or pruritic sensation to erythema, edema and wheals.<ref>PMID:1755842</ref><ref>PMID:1376018</ref><ref>PMID:7910885</ref><ref>PMID:8757534</ref><ref>PMID:9585598</ref><ref>PMID:9740232</ref><ref>PMID:10942404</ref><ref>PMID:11375302</ref><ref>PMID:12063482</ref><ref>PMID:12601550</ref><ref>PMID:15286165</ref><ref>PMID:17196862</ref> | |||
==Function== | |||
[[http://www.uniprot.org/uniprot/HEMH_HUMAN HEMH_HUMAN]] Catalyzes the ferrous insertion into protoporphyrin IX. | |||
==About this Structure== | ==About this Structure== | ||
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==Reference== | ==Reference== | ||
<ref group="xtra">PMID:017261801</ref><references group="xtra"/> | <ref group="xtra">PMID:017261801</ref><references group="xtra"/><references/> | ||
[[Category: Ferrochelatase]] | [[Category: Ferrochelatase]] | ||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
