LMNB2

LMNB2

A gene on chromosome 19p13.3 that encodes lamin B2, a protein highly conserved in evolution that forms part of the two-dimensional matrix of proteins located next to the inner nuclear membrane. Lamins are involved in providing nuclear stability and chromatin structure, and in gene expression.
References in periodicals archive ?
The respective disease-causative genes are as follows: CSTB , PRICKLE1 , MELF , NHLRC1 , KCTD7 , SCARB2 , PRICKLE2 , GOSR2 , KCNC1 , CERS1 , LMNB2 , and PRDM8 .[1],[2],[3],[4],[5],[6],[7],[8],[9],[10],[11],[12],[13] However, there are other neurogenetic diseases mainly characterized by myoclonus, epileptic seizures, and ataxia, such as myoclonus epilepsy and ragged red fibers, neuronal ceroid lipofuscinoses, sialidosis, dentatorubral-pallidoluysian atrophy (DRPLA), and neuronopathic Gaucher disease, while a literature also regarded these diseases as PMEs.[1] In clinic, it is difficult to make an exact diagnosis among the various forms of PMEs due to homogeneous phenotypes.
All patients with CGL and FPLD underwent molecular genetic studies of the genes AGPAT2, BSCL2, CAV1, PTRF, LMNA, LMNB2, PPARG, PLIN1, AKT2, and CIDEC that confirmed mutations in AGPAT2, BSCL2, PTRF, LMNA, PPARG loci in most patients.
Sequencing of the reannotated LMNB2 gene reveals novel mutations in patients with acquired partial lipodystrophy.
The LMNA gene encodes A-type lamins, whereas the B-type lamins, Bl B2, and 83, are encoded by the LMNB1 and LMNB2 genes (Goldman et al.
Lamins A and C are splice variants of a single lamin A (LMNA) gene, whereas lamins B1 and B2 are encoded by two separate LMNB1 and LMNB2 genes.