SMN1 Monoclonal Antibody

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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

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

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