Survival of motor neuron 2 (SMN2) is a gene that encodes the SMN protein (full and truncated) in humans. [5][6] The SMN2 gene is part of a 500 kb 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 SMN2 gene provides instructions for making the survival motor neuron (SMN) protein. Learn about this gene and related health conditions.

Learn about the biology, genetics, and causes of SMA, and how the SMN1 gene, SMN2 gene, and SMN protein affect SMA disease.

Spinal muscular atrophy (SMA) is one of the major genetic disorders associated with infant mortality. More than 90% cases of SMA result from deletions or mutations of Survival Motor Neuron 1 (SMN1) gene. SMN2, a nearly identical copy of SMN1, does ...

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 SMA is a homozygous deletion of the SMN1 exon 7, which can be readily detected and used as a sensitive diagnostic test.

Spinal muscular atrophy type II (also called Dubowitz disease) is characterized by muscle weakness that develops in children between ages 6 and 12 months. Children with this type can sit without support, although they may need help getting to a seated position.

2024年12月25日 · SMN2 (Survival Of Motor Neuron 2, Centromeric) is a Protein Coding gene. Diseases associated with SMN2 include Spinal Muscular Atrophy, Type Iii and Spinal Muscular Atrophy, Type I. Among its related pathways are Infectious disease and SARS-CoV-2 Infection.

2014年8月8日 · Spinal muscular atrophy (SMA) is a genetic disease caused by mutation or deletion of the survival of motor neuron 1 (SMN1) gene. A paralogous gene in humans, SMN2, produces low, insufficient levels of functional SMN protein …

Spinal muscular atrophy (SMA) is a common autosomal recessive disorder in humans, caused by homozygous absence of the survival motor neuron gene 1 (SMN1). SMN2, a copy gene, influences the severity of SMA and may be used in somatic …

SMN2 holds the promise for cure of SMA if skipping of exon 7 during pre-mRNA splicing of SMN2 could be prevented; SMN2 is present in all SMA patients; it lacks SMN exon 7. A single non-polymorphic nucleotide difference is responsible for the alternative splicing patterns.