This antibody, 11708-1-AP, raised against the recombinant full-length human SMN2 protein, recognizes all isoforms of SMN protein.
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.
For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.
Protein Aliases: Component of gems 1; Gemin-1; survival motor neuron 1; survival motor neuron 1 protein; Survival motor neuron protein; survival of motor neuron protein; tudor domain containing 16A
Gene Aliases: AI849087; BCD541; GEMIN1; SMA; SMA1; SMA2; SMA3; SMA4; SMA@; SMN; SMN1; SMN2; SMNC; SMNT; T-BCD541; TDRD16A