2kpw

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[[Image:2kpw.png|left|200px]]
 
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{{STRUCTURE_2kpw| PDB=2kpw | SCENE= }}
{{STRUCTURE_2kpw| PDB=2kpw | SCENE= }}
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===NMR solution structure of Lamin-B1 protein from Homo sapiens: Northeast Structural Genomics Consortium MEGA target, HR5546A (439-549)===
===NMR solution structure of Lamin-B1 protein from Homo sapiens: Northeast Structural Genomics Consortium MEGA target, HR5546A (439-549)===
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==Disease==
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[[http://www.uniprot.org/uniprot/LMNB1_HUMAN LMNB1_HUMAN]] Defects in LMNB1 are the cause of leukodystrophy demyelinating autosomal dominant adult-onset (ADLD) [MIM:[http://omim.org/entry/169500 169500]]. ADLD is a slowly progressive and fatal demyelinating leukodystrophy, presenting in the fourth or fifth decade of life. Clinically characterized by early autonomic abnormalities, pyramidal and cerebellar dysfunction, and symmetric demyelination of the CNS. It differs from multiple sclerosis and other demyelinating disorders in that neuropathology shows preservation of oligodendroglia in the presence of subtotal demyelination and lack of astrogliosis.<ref>PMID:16951681</ref>
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==Function==
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[[http://www.uniprot.org/uniprot/LMNB1_HUMAN LMNB1_HUMAN]] Lamins are components of the nuclear lamina, a fibrous layer on the nucleoplasmic side of the inner nuclear membrane, which is thought to provide a framework for the nuclear envelope and may also interact with chromatin.
==About this Structure==
==About this Structure==
[[2kpw]] is a 1 chain structure with sequence from [http://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full experimental information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=2KPW OCA].
[[2kpw]] is a 1 chain structure with sequence from [http://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full experimental information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=2KPW OCA].
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==Reference==
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<references group="xtra"/><references/>
[[Category: Homo sapiens]]
[[Category: Homo sapiens]]
[[Category: Acton, T.]]
[[Category: Acton, T.]]

Revision as of 04:16, 25 March 2013

Template:STRUCTURE 2kpw

Contents

NMR solution structure of Lamin-B1 protein from Homo sapiens: Northeast Structural Genomics Consortium MEGA target, HR5546A (439-549)

Disease

[LMNB1_HUMAN] Defects in LMNB1 are the cause of leukodystrophy demyelinating autosomal dominant adult-onset (ADLD) [MIM:169500]. ADLD is a slowly progressive and fatal demyelinating leukodystrophy, presenting in the fourth or fifth decade of life. Clinically characterized by early autonomic abnormalities, pyramidal and cerebellar dysfunction, and symmetric demyelination of the CNS. It differs from multiple sclerosis and other demyelinating disorders in that neuropathology shows preservation of oligodendroglia in the presence of subtotal demyelination and lack of astrogliosis.[1]

Function

[LMNB1_HUMAN] Lamins are components of the nuclear lamina, a fibrous layer on the nucleoplasmic side of the inner nuclear membrane, which is thought to provide a framework for the nuclear envelope and may also interact with chromatin.

About this Structure

2kpw is a 1 chain structure with sequence from Homo sapiens. Full experimental information is available from OCA.

Reference

  1. ↑ Padiath QS, Saigoh K, Schiffmann R, Asahara H, Yamada T, Koeppen A, Hogan K, Ptacek LJ, Fu YH. Lamin B1 duplications cause autosomal dominant leukodystrophy. Nat Genet. 2006 Oct;38(10):1114-23. Epub 2006 Sep 3. PMID:16951681 doi:ng1872

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