3umn | pdb_00003umn
Crystal Structure of Lamin-B1
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
3umn is a 3 chain structure with sequence from Homo sapiens. This structure supersedes the now removed PDB entry 3hn9. 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
