Product information
Price | €240, €410 |
---|---|
Size | 50 µl/µg | 100 µl/µg |
Short name | Survival motor neuron protein |
Host | Mouse |
Isotype | IgG |
Target protein | SMN1 |
Recommended applications | ELISA, FCM, IF, IHC-p, WB |
Reactivity | Human, Monkey |
Immunogen | Purified recombinant fragment of human SMN1 expressed in E. Coli. |
Purification | Affinity purification |
Formulation | Ascitic fluid containing 0.03% sodium azide;0.5% BSA; 50%glycerol. |
Storage | -20°C for 1 year |
Product code | MB-AM10077 |
Additional information
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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. However, mutations in this gene, the telomeric copy, are associated with spinal muscular atrophy| mutations in the centromeric copy do not lead to disease. The centromeric copy may be a modifier of disease caused by mutation in the telomeric copy. The critical sequence difference between the two genes is a single nucleotide in exon 7, which is thought to be an exon splice enhancer. Note that the nine exons of both the telomeric and centromeric copies are des
SMN1, SMN, SMNT, SMN2, SMNC, Survival motor neuron protein, Component of gems 1, Gemin-1
Human: Q16637, Mouse: P97801
Human: 6606