SMN1
SMN1 stands for "Survival of Motor Neuron 1," a gene located on chromosome 5. It plays a crucial role in producing a protein essential for the survival of motor neurons, which are nerve cells responsible for controlling muscle movements. Mutations or deletions in the SMN1 gene can lead to severe neurological conditions, most notably spinal muscular atrophy (SMA).
Spinal muscular atrophy is a genetic disorder characterized by the progressive loss of motor neurons, resulting in muscle weakness and atrophy. The severity of SMA can vary, with some individuals experiencing mild symptoms while others face significant challenges. Understanding SMN1 is vital for developing treatments and therapies for those affected by this condition.