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MGP001829

UniProt Annotations

Entry Information
Gene Namelamin B1
Protein EntryLMNB1_HUMAN
UniProt IDP20700
SpeciesHuman
Comments
Comment typeDescription
DiseaseLeukodystrophy, demyelinating, autosomal dominant, adult- onset (ADLD) [MIM:169500]: 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. {ECO:0000269|PubMed:16951681}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionLamins 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.
MiscellaneousThe structural integrity of the lamina is strictly controlled by the cell cycle, as seen by the disintegration and formation of the nuclear envelope in prophase and telophase, respectively.
PtmB-type lamins undergo a series of modifications, such as farnesylation and phosphorylation. Increased phosphorylation of the lamins occurs before envelope disintegration and probably plays a role in regulating lamin associations. {ECO:0000269|PubMed:16964243, ECO:0000269|PubMed:17081983, ECO:0000269|PubMed:18669648, ECO:0000269|PubMed:19690332, ECO:0000269|PubMed:20068231, ECO:0000269|PubMed:21406692}.
SimilarityBelongs to the intermediate filament family. {ECO:0000305}.
SimilarityContains 1 LTD domain. {ECO:0000305}.
Subcellular LocationNucleus inner membrane; Lipid-anchor; Nucleoplasmic side.
SubunitHomodimer. Interacts with lamin-associated polypeptides IA, IB and 2. {ECO:0000269|PubMed:22265972}.
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