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The SMN1 gene is part of a 500 kb 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 genomic region. The telomeric and centromeric copies of this gene are nearly identical and encode the same protein - survival motor neuron protein. The SMN complex plays a catalyst role in the assemble of small nuclear ribonucleoproteins, the building blocks of the spliceosome. Mutations in the SMN1 gene are known to cause spinal muscular atrophy 1/2.
AI849087; BCD541; component of gems 1; Gemin1; Gemin-1; SMA; SMA@; SMA1; SMA2; SMA3; SMA4; Smn; SMN1; SMN2; SMNC; SMNT; survival motor neuron 1; survival motor neuron 1 protein; survival motor neuron protein; survival of motor neuron 1, telomeric; survival of motor neuron protein; T-BCD541; TDRD16A; tudor domain containing 16A
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100 µg