2oct: Difference between revisions
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{{STRUCTURE_2oct| PDB=2oct | SCENE= }} | {{STRUCTURE_2oct| PDB=2oct | SCENE= }} | ||
===Stefin B (Cystatin B) tetramer=== | |||
{{ABSTRACT_PUBMED_17217964}} | |||
=== | ==Disease== | ||
[[http://www.uniprot.org/uniprot/CYTB_HUMAN CYTB_HUMAN]] Defects in CSTB are the cause of progressive myoclonic epilepsy type 1 (EPM1) [MIM:[http://omim.org/entry/254800 254800]]. EPM1 is an autosomal recessive disorder characterized by severe, stimulus-sensitive myoclonus and tonic-clonic seizures. The onset, occurring between 6 and 13 years of age, is characterized by convulsions. Myoclonus begins 1 to 5 years later. The twitchings occur predominantly in the proximal muscles of the extremities and are bilaterally symmetrical, although asynchronous. At first small, they become late in the clinical course so violent that the victim is thrown to the floor. Mental deterioration and eventually dementia develop.<ref>PMID:9012407</ref> | |||
==Function== | |||
[[http://www.uniprot.org/uniprot/CYTB_HUMAN CYTB_HUMAN]] This is an intracellular thiol proteinase inhibitor. Tightly binding reversible inhibitor of cathepsins L, H and B. | |||
==About this Structure== | ==About this Structure== | ||
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==Reference== | ==Reference== | ||
<ref group="xtra">PMID:017217964</ref><references group="xtra"/> | <ref group="xtra">PMID:017217964</ref><references group="xtra"/><references/> | ||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
[[Category: Guncar, G.]] | [[Category: Guncar, G.]] | ||
