Enables alpha-actinin binding activity. Involved in several processes, including chemical synaptic transmission; protein-RNA complex assembly; and synapse organization. Located in Z disc; neuromuscular junction; and nuclear body. Part of several cellular components, including SMN complex; SMN-Gemin2 complex; and SmD-containing SMN-Sm protein complex. Is expressed in several structures, including adult head; anterior endoderm anlage; ganglia; germline cell; and gonad. Used to study childhood spinal muscular atrophy; intermediate spinal muscular atrophy; juvenile spinal muscular atrophy; and spinal muscular atrophy. Human ortholog(s) of this gene implicated in Werdnig-Hoffmann disease; adult spinal muscular atrophy; intermediate spinal muscular atrophy; juvenile spinal muscular atrophy; and spinal muscular atrophy. Orthologous to human SMN1 (survival of motor neuron 1, telomeric) and SMN2 (survival of motor neuron 2, centromeric).
FB Description
survival motor neuron (Smn) encodes the eponymous member of the SMN complex, which functions as an assembly chaperone for Sm-class small nuclear ribonucleoproteins. The SMN complex contains three other 'Gemin' proteins encoded by Gem2, Gem3 and rig. Smn is essential for viability but higher levels of the protein are required for proper neuromuscular development and function.