Coilin

Coilin is a protein that in humans is encoded by the COIL gene. It is a major component of the Cajal body, a subnuclear structure found in the nucleus of the cell. Coilin is named after the Spanish neurologist Santiago Ramón y Cajal, who first described the Cajal body.

Function

Coilin is involved in the organization and function of the Cajal body. It is essential for the formation of the Cajal body and is thought to help in the assembly and/or maintenance of the structure. The Cajal body is involved in the biogenesis of several classes of small ribonucleoprotein particles (snRNPs), which are essential for pre-mRNA splicing.

Structure

The COIL gene encodes a protein of 576 amino acids with a predicted molecular weight of approximately 63 kDa. The protein has a unique structure with no significant homology to other known proteins. It contains a nuclear localization signal (NLS) at its N-terminus, which is necessary for its localization to the nucleus and Cajal bodies.

Clinical significance

Mutations in the COIL gene have been associated with several diseases. For example, a mutation in the COIL gene has been linked to autosomal recessive primary microcephaly, a rare neurodevelopmental disorder characterized by a significantly reduced brain size and intellectual disability.

Research

Research on Coilin is ongoing, with studies focusing on its role in the Cajal body and its potential involvement in disease. Understanding the function of Coilin could provide insights into the mechanisms of pre-mRNA splicing and the pathogenesis of diseases associated with mutations in the COIL gene.

File:Coilin protein.jpg

Coilin protein structure. Image from Wikimedia Commons.

See also

• Cajal body
• Gene
• Protein
• Nucleus (cell)
• Pre-mRNA splicing