SMN1/SMN2 is part of a 500kb 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 repetitiveness and complexity of the sequence have also caused difficulty in determining the organization of this...

Survival of Motor Neuron 1 (SMN, Germin 1) is the central component of a large oligomeric complex (SMN complex), including Gemins 2-7, that is necessary and sufficient for the in vivo assembly of Sm proteins onto the small nuclear (sn)RNAs that mediate pre-mRNA splicing. The SMN complex is found in the cytoplasm and...