What does SMN1 protein do?
What does SMN1 protein do?
Normal Function The SMN1 gene provides instructions for making the survival motor neuron (SMN) protein. The SMN protein is found throughout the body, with highest levels in the spinal cord.
What protein is SMN1?
Spinal muscular atrophy is caused by a mutation in the survival motor neuron 1 (SMN1) gene. This gene is responsible for producing survival motor neuron (SMN) protein, which maintains the health and normal function of motor neurons.
How can I increase my SMN protein?
Researchers are exploring a series of therapeutic approaches that target SMN2 to make more functional SMN protein in one of three ways:
- By correcting SMN2 splicing, allowing the gene to more efficiently produce functional SMN protein;
- By increasing protein production from SMN2, leading to more functional SMN protein;
What is Spinal muscular atrophy?
Spinal muscular atrophy (SMA) is a group of hereditary diseases that progressively destroys motor neurons—nerve cells in the brain stem and spinal cord that control essential skeletal muscle activity such as speaking, walking, breathing, and swallowing, leading to muscle weakness and atrophy.
What is the role of the SMN1 protein?
Thereby, plays an important role in the splicing of cellular pre-mRNAs. Most spliceosomal snRNPs contain a common set of Sm proteins SNRPB, SNRPD1, SNRPD2, SNRPD3, SNRPE, SNRPF and SNRPG that assemble in a heptameric protein ring on the Sm site of the small nuclear RNA to form the core snRNP.
What happens to the SMN1 gene in spinal muscular atrophy?
In individuals with spinal muscular atrophy, both copies of the SMN1 gene are mutated, leading to decreased production of SMN protein. Without a proper level of SMN protein, motor neurons in the spinal cord will be lost, preventing the muscles from receiving proper signals from the brain.
Where are SMN1 and SMN2 genes located?
SMN1 and SMN2 are part of a 500 kbp inverted duplication on chromosome 5q13. This duplicated region contains at least four genes and repetitive elements which make it prone to rearrangements and deletions. The repetitiveness and complexity of the sequence have also caused difficulty in determining the organization of this genomic region.
How is the survival of motor neuron ( SMN ) gene translated?
The survival of motor neuron protein ( SMN) is a amino acid RNA -binding protein that can be translated from either the SMN1 or SMN2 genes. This protein assembles snRNP complexes that can be used to process mRNA needed to make additional proteins that are necessary for proper growth and function of motor neuron cells. Liu, Q, et al.