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 …

2025年3月30日 · SMN1 (Survival Of Motor Neuron 1, Telomeric) is a Protein Coding gene. Diseases associated with SMN1 include Spinal Muscular Atrophy, Type I and Spinal Muscular …

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 …

SMN1是 剪接体 的组成部分，剪接体复合物在小核糖核蛋白 (snRNPs)的组装中起着催化剂的作用，因此在pre-mRNA的剪接中起着重要的作用。从其命名就可以看出，该蛋白在维持运动神经 …

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 …

Affected individuals with SMA have a homozygous loss of function of the survival motor neuron gene SMN1 on 5q13 but keep the modifying SMN2 gene. The most common mutation causing …

A long non-coding RNA (lncRNA) that arises from the antisense strand of SMN, SMN-AS1, is enriched in neurons and transcriptionally represses SMN expression by recruiting the …

The SMN1 and SMN2 genes lie within the telomeric and centromeric halves, respectively, of a large, inverted duplication on chromosome 5q13. These genes share more than 99% …

Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder caused by pathogenic variants in the SMN1 gene. The majority of SMA patients harbor a homozygous …

2025年3月28日 · Both SMN1 and its paralog, SMN2 encode the same protein (SMN) and copy numbers of each can range from zero to four or more. SMA disease is modified by copy …