2jqk: Difference between revisions
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{{STRUCTURE_2jqk| PDB=2jqk | SCENE= }} | {{STRUCTURE_2jqk| PDB=2jqk | SCENE= }} | ||
===VPS4B MIT-CHMP2B Complex=== | |||
{{ABSTRACT_PUBMED_17928862}} | |||
=== | ==Disease== | ||
[[http://www.uniprot.org/uniprot/CHM2B_HUMAN CHM2B_HUMAN]] Defects in CHMP2B are the cause of frontotemporal dementia, chromosome 3-linked (FTD3) [MIM:[http://omim.org/entry/600795 600795]]. FTD3 is characterized by an onset of dementia in the late 50's initially characterized by behavioral and personality changes including apathy, restlessness, disinhibition and hyperorality, progressing to stereotyped behaviors, non-fluent aphasia, mutism and dystonia, with a marked lack of insight. The brains of individuals with FTD3 have no distinctive neuropathological features. They show global cortical and central atrophy, but no beta-amyloid deposits.<ref>PMID:16041373</ref> Defects in CHMP2B are the cause of amyotrophic lateral sclerosis type 17 (ALS17) [MIM:[http://omim.org/entry/614696 614696]]. An adult-onset progressive neurodegenerative disorder with predominantly lower motor neuron involvement, manifest as muscle weakness and wasting of the upper and lower limbs, bulbar signs, and respiratory insufficiency.<ref>PMID:16807408</ref><ref>PMID:20352044</ref> | |||
==Function== | |||
[[http://www.uniprot.org/uniprot/VPS4B_HUMAN VPS4B_HUMAN]] Involved in late steps of the endosomal multivesicular bodies (MVB) pathway. Recognizes membrane-associated ESCRT-III assemblies and catalyzes their disassembly, possibly in combination with membrane fission. Redistributes the ESCRT-III components to the cytoplasm for further rounds of MVB sorting. MVBs contain intraluminal vesicles (ILVs) that are generated by invagination and scission from the limiting membrane of the endosome and mostly are delivered to lysosomes enabling degradation of membrane proteins, such as stimulated growth factor receptors, lysosomal enzymes and lipids. In conjunction with the ESCRT machinery also appears to function in topologically equivalent membrane fission events, such as the terminal stages of cytokinesis and enveloped virus budding (HIV-1 and other lentiviruses).<ref>PMID:11563910</ref><ref>PMID:14505570</ref><ref>PMID:18687924</ref> [[http://www.uniprot.org/uniprot/CHM2B_HUMAN CHM2B_HUMAN]] Probable core component of the endosomal sorting required for transport complex III (ESCRT-III) which is involved in multivesicular bodies (MVBs) formation and sorting of endosomal cargo proteins into MVBs. MVBs contain intraluminal vesicles (ILVs) that are generated by invagination and scission from the limiting membrane of the endosome and mostly are delivered to lysosomes enabling degradation of membrane proteins, such as stimulated growth factor receptors, lysosomal enzymes and lipids. The MVB pathway appears to require the sequential function of ESCRT-O, -I,-II and -III complexes. ESCRT-III proteins mostly dissociate from the invaginating membrane before the ILV is released. The ESCRT machinery also functions in topologically equivalent membrane fission events, such as the terminal stages of cytokinesis and the budding of enveloped viruses (HIV-1 and other lentiviruses). ESCRT-III proteins are believed to mediate the necessary vesicle extrusion and/or membrane fission activities, possibly in conjunction with the AAA ATPase VPS4. | |||
==About this Structure== | ==About this Structure== | ||
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==Reference== | ==Reference== | ||
<ref group="xtra">PMID:017928862</ref><references group="xtra"/> | <ref group="xtra">PMID:017928862</ref><references group="xtra"/><references/> | ||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
[[Category: Ghaffarian, S.]] | [[Category: Ghaffarian, S.]] | ||