LMNB1 : lamin B1

Description

The LMNB1 (lamin B1) is a protein-coding gene located on chromosome 5.

The LMNB1 gene provides instructions for making the lamin B1 protein. Lamin B1 is a structural protein called an intermediate filament protein. Intermediate filaments provide stability and strength to cells. Lamin B1 is a scaffolding (supporting) component of the nuclear envelope, which is the structure that surrounds the nucleus in cells. Specifically, this protein is located in the nuclear lamina, a mesh-like layer of intermediate filaments and other proteins that is attached to the inner membrane of the nuclear envelope. As part of the nuclear envelope, lamin B1 helps regulate the movement of molecules into and out of the nucleus. The protein also plays a role in the copying (replication) of DNA in preparation for cell division and the activity (expression) of many genes by being involved in the organization of chromosomes within the nucleus.

LMNB1 encodes Lamin B1, a key component of the nuclear lamina, a fibrous layer lining the inner nuclear membrane. Lamins, including Lamin B1, form a filamentous meshwork that provides structural support for the nuclear envelope. This framework connects the nuclear envelope to chromatin, playing a critical role in nuclear assembly, organization of chromosomes within the nucleus, nuclear membrane dynamics, and telomere maintenance. The integrity of the nuclear lamina is tightly regulated during the cell cycle, with disassembly during prophase and reassembly during telophase.

LMNB1 is also known as ADLD, LMN, LMN2, LMNB, MCPH26.

Associated Diseases

• Adult-onset autosomal dominant leukodystrophy
• Leukodystrophy, adult-onset, autosomal dominant
• Microcephaly 26, primary, autosomal dominant
• Autosomal dominant primary microcephaly
• Autosomal dominant leukodystrophy with autonomic disease