2kpw | pdb_00002kpw
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
Proteopedia Page Contributors and Editors (what is this?)
- Homo sapiens
- Acton, T.
- Belote, R.
- Ciccosanti, C L.
- Everett, J.
- Hamilton, K.
- Huang, Y.
- Montelione, G T.
- NESG, Northeast Structural Genomics Consortium.
- Swapna, G V.T.
- Xiao, R.
- Gft
- Hr5546a
- Intermediate filament
- Lamin-b1
- Leukodystrophy
- Lipoprotein
- Membrane
- Nesg
- Northeast structural genomics consortium
- Nucleus
- Phosphoprotein
- Prenylation
- Protein structure initiative
- Psi-2
- Structural genomic
- Structural protein
