SMN1 Monoclonal Antibody - RA12006

SMN1 Monoclonal Antibody

Size: 50μL, 100μL

Catalogue Numbers: RA12006-50, RA12006-100

Citations, Manuals and MSDS Available upon request.

Background: survival of motor neuron 1, telomeric (SMN1) Homo sapiens 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

Condition: Ascitic fluid containing 0.03% sodium azide, 0.5% BSA, 50% glycerol.

Storage Instructions: -20°C/1 year

Applications: WB; IHC-p; IF/ICC; ELISA

Species Cross-Reactivity: Human; Monkey

GeneID (Human): 6606

SWISS: Q16637

Source: Mouse

Research Use Only