3tyy

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Template:STRUCTURE 3tyy

Contents 1 Crystal Structure of Human Lamin-B1 Coil 2 Segment 2 Disease 3 Function 4 About this Structure 5 Reference

Crystal Structure of Human Lamin-B1 Coil 2 Segment

Template:ABSTRACT PUBMED 22265972

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

3tyy is a 2 chain structure with sequence from Homo sapiens. This structure supersedes the now removed PDB entry 3mov. Full crystallographic information is available from OCA.

Reference

• Ruan J, Xu C, Bian C, Lam R, Wang JP, Kania J, Min J, Zang J. Crystal structures of the coil 2B fragment and the globular tail domain of human lamin B1. FEBS Lett. 2012 Feb 17;586(4):314-8. Epub 2012 Jan 16. PMID:22265972 doi:10.1016/j.febslet.2012.01.007

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