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 …

Feb 24, 2000 · SMA is caused by loss of SMN1 because SMN2 cannot fully compensate for loss of SMN1- produced protein. However, when the SMN2 (dosage) copy number is increased, …

Jun 30, 2023 · SMA is an inherited disease caused by a mutation in the two survival motor neuron genes, SMN1 and SMN2. SMN genes make SMN proteins, which are necessary for motor …

However, there are some key differences between these two genes. The SMN1 gene is the primary gene responsible for producing functional SMN protein, while the SMN2 gene is …

Feb 18, 2020 · We developed a method that accurately identifies the CN of SMN1 and SMN2 using genome sequencing (GS) data by analyzing read depth and eight informative reference …

Mar 21, 2025 · Background The complex 2 Mb survival motor neuron (SMN) locus on chromosome 5q13, including the spinal muscular atrophy (SMA)-causing gene SMN1 and …

Feb 27, 2023 · The SMN1 and SMN2 genes are both essential to the production of the SMN protein, which plays a key role in the development of many human diseases. While SMN1 is a …

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 …

Array dPCR is a practical technique to determine, accurately and reliably, SMN1 and SMN2 CNs from SMA samples as well as identify gene conversion events and partial deletions of SMN1.