Survival of motor neuron - Wikipedia
Survival of motor neuron or survival motor neuron (SMN) is a protein that in humans is encoded by the SMN1 and SMN2 genes. SMN is found in the cytoplasm of all animal cells and also in the nuclear gems. It functions in transcriptional regulation, telomerase regeneration and …
Diverse role of Survival Motor Neuron Protein - PMC - PubMed …
The multifunctional Survival Motor Neuron (SMN) protein is required for the survival of all organisms of the animal kingdom. SMN impacts various aspects of RNA metabolism through the formation and/or interaction with ribonucleoprotein (RNP) ...
SMN1 - Wikipedia
Survival of motor neuron 1 (SMN1), also known as component of gems 1 or GEMIN1, is a gene that encodes the SMN protein in humans. [5][6] SMN1 is the telomeric copy of the gene encoding the SMN protein; the centromeric copy is termed SMN2. SMN1 and SMN2 are part of a 500 kbp inverted duplication on chromosome 5q13.
SMN1 gene - MedlinePlus
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. This protein is one of a group of proteins called the SMN complex, which is important for the maintenance of specialized nerve cells called motor neurons.
Survival Motor Neuron Protein - an overview - ScienceDirect
The Survival Motor Neuron (SMN) protein is defined as the central component of a macromolecular complex involved in assembling a protein ring on small nuclear RNAs, leading to the formation of small nuclear ribonucleoproteins (snRNPs) essential for mRNA splicing in cells. AI generated definition based on: Spinal Muscular Atrophy, 2017
The role of survival motor neuron protein (SMN) in protein homeostasis
2018年6月5日 · We discuss known functions of the SMN protein, starting with its first-described role in RNA splicing and spliceosomal assembly, followed by more recently discovered functions in regulating mitochondrial homeostasis, endocytosis and the cytoskeleton, ubiquitination and autophagy, and RNA transportation, thus giving a broad picture of the many ...
The role of survival motor neuron protein (SMN) in protein
Ever since loss of survival motor neuron (SMN) protein was identified as the direct cause of the childhood inherited neurodegenerative disorder spinal muscular atrophy, significant efforts have been made to reveal the molecular functions of this ubiquitously expressed protein.
Spinal muscular atrophy | Nature Reviews Disease Primers
2022年8月4日 · Spinal muscular atrophy (SMA) is a neurodegenerative disorder caused by mutations in SMN1 (encoding survival motor neuron protein (SMN)). Reduced expression of SMN leads to loss of α-motor...
Sumoylation regulates the assembly and activity of the SMN …
2021年8月19日 · SMN deficiency causes the neurodegenerative disease spinal muscular atrophy (SMA), the leading genetic cause of infant mortality. SMN interacts with itself and other proteins to form a complex...
Diverse role of survival motor neuron protein - PubMed
The multifunctional Survival Motor Neuron (SMN) protein is required for the survival of all organisms of the animal kingdom. SMN impacts various aspects of RNA metabolism through the formation and/or interaction with ribonucleoprotein (RNP) complexes.