Lamin A
Lamin A is a type of protein that in humans is encoded by the LMNA gene. It is a major component of the nuclear lamina, a protein network on the inner edge of the nucleus in a cell. Lamin A is vital for the mechanical stability and integrity of the nucleus, and is involved in a range of nuclear functions including DNA replication and DNA repair.
Structure[edit | edit source]
Lamin A is a type of intermediate filament protein. It has a central rod domain, with a short head and a long tail domain. The central rod domain is made up of four parts, each of which is a coiled coil structure. The head and tail domains are both unstructured and flexible.
Function[edit | edit source]
Lamin A is involved in providing mechanical support to the nucleus, and in organizing and anchoring chromosomes at the nuclear periphery. It also plays a role in DNA replication and repair, and in regulating gene expression.
Clinical significance[edit | edit source]
Mutations in the LMNA gene can lead to a variety of diseases, collectively known as laminopathies. These include Hutchinson-Gilford progeria syndrome, a rare genetic disorder that causes rapid aging in children, and Emery-Dreifuss muscular dystrophy, which affects the muscles and heart.
See also[edit | edit source]
- Lamin
- Nuclear lamina
- Laminopathies
- Hutchinson-Gilford progeria syndrome
- Emery-Dreifuss muscular dystrophy
References[edit | edit source]
Lamin A Resources | ||
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Contributors: Prab R. Tumpati, MD