The SMN2 gene provides instructions for making the survival motor neuron (SMN) protein. Learn about this gene and related health conditions.

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. …

Mar 30, 2025 · SMN2 (Survival Of Motor Neuron 2, Centromeric) is a Protein Coding gene. Diseases associated with SMN2 include Spinal Muscular Atrophy, Type Iii and Spinal …

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

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 …

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 …

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 …

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, …

Aug 8, 2014 · 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, …

Mar 26, 2025 · Title: Effects of Inhibitors of SLC9A-Type Sodium-Proton Exchangers on Survival Motor Neuron 2 (SMN2) mRNA Splicing and Expression. Revealing diverse alternative splicing …