Survival of motor neuron

Survival of Motor Neuron (SMN)

Structure of the SMN protein.

The Survival of Motor Neuron (SMN) protein is a critical component in the biogenesis of small nuclear ribonucleoproteins (snRNPs), which are essential for the splicing of pre-mRNA. The SMN protein is encoded by the SMN1 and SMN2 genes in humans. Mutations or deletions in the SMN1 gene lead to spinal muscular atrophy (SMA), a genetic disorder characterized by the loss of motor neurons and progressive muscle wasting.

Structure

The SMN protein is a highly conserved protein that forms a complex with several other proteins, known as the SMN complex. The structure of the SMN protein, as depicted in the image, reveals its ability to interact with other proteins and RNA molecules. The SMN complex is crucial for the assembly of snRNPs, which are components of the spliceosome.

Function

The primary function of the SMN protein is to facilitate the assembly of snRNPs in the cytoplasm. These snRNPs are then transported into the nucleus where they participate in the splicing of pre-mRNA. The SMN protein also plays a role in the maintenance of motor neurons, which are the nerve cells responsible for controlling voluntary muscle movements.

Clinical Significance

Mutations in the SMN1 gene result in reduced levels of the SMN protein, leading to spinal muscular atrophy. SMA is classified into different types based on the age of onset and severity of symptoms. The presence of the SMN2 gene, which produces a small amount of functional SMN protein, can modify the severity of the disease. Therapeutic approaches for SMA include gene therapy, which aims to increase the production of the SMN protein.

Related Pages

• Spinal muscular atrophy
• SMN1
• SMN2
• Small nuclear ribonucleoprotein
• Spliceosome

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