SMN1 Monoclonal Antibody (5H1), Invitrogen™

Description

MA5-15858 targets SMN1 in indirect ELISA, IF, IHC, and WB applications and shows reactivity with Human and Non-human primate samples. The MA5-15858 immunogen is purified recombinant fragment of human SMN1 expressed in E. Coli. . MA5-15858 detects SMN1 which has a predicted molecular weight of approximately 39kDa.

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.