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. |
References |
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1. J Med Genet. 2009 Sep;46(9):641-4. 2. RNA. 2009 Apr;15(4):515-23. |
Specification | |
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Aliases | SMA; SMN; SMA1; SMA2; SMA3; SMA4; SMA@; SMN2; SMNT; BCD541; T-BCD541 |
Entrez GeneID | 6606 |
Swissprot | Q16637 |
clone | 2F1 |
WB Predicted band size | 39kDa |
Host/Isotype | Mouse IgG1 |
Storage | Store at 4°C short term. Aliquot and store at -20°C long term. Avoid freeze/thaw cycles. |
Species Reactivity | Human,Monkey |
Immunogen |
Purified recombinant fragment of human SMN1 expressed in E. Coli. |
Formulation | Ascitic fluid containing 0.03% sodium azide. |