Lamin B Receptor Mutation

It may mediate the interaction between chromatin and lamin b.

Lamin b receptor mutation. Mutations of this gene has been associated with autosomal recessive hem greenberg skeletal dysplasia. Mutations in lbr have been associated with a variety of disorders such as pelger huët anomaly a benign abnormality affecting neutrophils and greenberg dysplasia a lethal condition in the perinatal period. Further definition of the phenotypic heterogeneity of lbr bone dysplasias. We demonstrate that human lbr is essential for cholesterol synthesis.

The lamin b receptor is essential for cholesterol synthesis and perturbed by disease causing mutations lamin b receptor lbr is a polytopic membrane protein residing in the inner nuclear membrane in association with the nuclear lamina. The severity of the disease depends on the nature of the specific mutation and whether one or both copies of the gene are affected. In humans mutations in the gene that encodes a protein called lamin b receptor can lead to diseases ranging from harmless anomalies of blood cells to fatal developmental defects. An anadysplasia like spontaneously remitting spondylometaphyseal dysplasia secondary to lamin b receptor lbr gene mutations.

It is thought that impairment of the receptor s dna binding domain leads to this condition. It localizes to the inner membrane of the nuclear envelope and anchors the lamina and the heterochromatin to the membrane. Lamin b1 is involved in the processes of dna replication cell cycle progression and gene silencing through binding to lads. Ccg ctg causing proline leucine in codon 119.

Pelger huët anomaly is an inherited abnormality of neutrophils characterized by reduced nuclear segmentation and an apparently looser chromatin structure. Lamin b receptor lbr is an inner nuclear membrane protein that associates with the nuclear lamina and harbors sterol reductase activity essential for cholesterol biosynthesis. Among the inm integral proteins lamin b receptor lbr is the best studied. Several lbr mutations implicated in human.

Mutations implicated in other nuclear envelopathies were found in genes coding for lamin binding proteins such as lamin b receptor lbr gene emerin emd gene and lem domain containing protein 3 lemd3 gene and prelamin a processing enzymes such as the zinc metalloproteinase ste24 zmpste24 gene. Following linkage studies in two families the lamin b receptor lbr was sequenced and mutations found.