This 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.
Aliases: SMA; SMN; SMA1; SMA2; SMA3; SMA4; SMA@; SMN2; SMNT; BCD541; T-BCD541
Entrez GeneID: 6606
Swissprot: Q16637
WB Predicted band size: 39kDa
Host/Isotype: Mouse IgG1
Species Reactivity: Human,Monkey
Immunogen: Purified recombinant fragment of human SMN1 expressed in E. Coli.