3fnv: Difference between revisions
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{{STRUCTURE_3fnv| PDB=3fnv | SCENE= }} | {{STRUCTURE_3fnv| PDB=3fnv | SCENE= }} | ||
===Crystal Structure of Miner1: The Redox-active 2Fe-2S Protein Causative in Wolfram Syndrome 2=== | |||
{{ABSTRACT_PUBMED_19580816}} | |||
=== | ==Disease== | ||
[[http://www.uniprot.org/uniprot/CISD2_HUMAN CISD2_HUMAN]] Defects in CISD2 are the cause of Wolfram syndrome type 2 (WFS2) [MIM:[http://omim.org/entry/604928 604928]]. A rare disorder characterized by juvenile-onset insulin-dependent diabetes mellitus with optic atrophy. Other manifestations include diabetes insipidus, sensorineural deafness, dementia, psychiatric illnesses. WFS2 patients additionally show a strong bleeding tendency and gastrointestinal ulceration. Diabetes insipidus may be absent.<ref>PMID:17846994</ref> | |||
==Function== | |||
[[http://www.uniprot.org/uniprot/CISD2_HUMAN CISD2_HUMAN]] Regulator of autophagy that contributes to antagonize BECN1-mediated cellular autophagy at the endoplasmic reticulum. Participates in the interaction of BCL2 with BECN1 and is required for BCL2-mediated depression of endoplasmic reticulum Ca(2+) stores during autophagy. Contributes to BIK-initiated autophagy, while it is not involved in BIK-dependent activation of caspases. Involved in life span control, probably via its function as regulator of autophagy.<ref>PMID:17846994</ref><ref>PMID:20010695</ref> | |||
==About this Structure== | ==About this Structure== | ||
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==Reference== | ==Reference== | ||
<ref group="xtra">PMID:019580816</ref><references group="xtra"/> | <ref group="xtra">PMID:019580816</ref><references group="xtra"/><references/> | ||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
[[Category: Abresch, E C.]] | [[Category: Abresch, E C.]] | ||
