SMN1 antibody [2F1]

Cannot supply to this region.

SKU:: GTX60451
Additional Names:: survival of motor neuron 1, telomeric , BCD541 , GEMIN1 , SMA , SMA1 , SMA2 , SMA3 , SMA4 , SMA@ , SMN , SMNT , T-BCD541 , TDRD16A
Application:: ELISA, Flow Cytometry, WB, IHC-P
Physical State:: Liquid
Species Reactivity:: Human
Purification:: Unpurified
Storage Conditions:: -20[o]C Aliquot. Avoid freeze/thaw cycles. Store undiluted., 2-8[o]C Aliquot. Avoid freeze/thaw cycles. Store undiluted., -20[o]C/-70[o]C Aliquot. Avoid freeze/thaw cycles. Store undiluted.
Supplier:: Genetex
Host:: Mouse
Reactivities:: Human
Buffer:: Ascites, 0.03% Sodium azide.
Immunogen:: Purified recombinant fragment(148-294 a.a.) of human SMN1 expressed in E. Coli.
Clone:: 2F1
Uniprot:: Q16637
Synonyms:: BCD541;C-BCD541;component of gems 1;gemin-1;GEMIN1;SMA;SMA@;SMA1;SMA2;SMA3;SMA4;SMN;SMNC;SMNT;survival motor neuron 1 protein;survival motor neuron protein;T-BCD541;TDRD16A;TDRD16B;tudor domain containing 16A;tudor domain containing 16B
Extra Details:: 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 designated historically as exon 1, 2a, 2b, and 3-8. It is thought that gene conversion events may involve t

Shipping Conditions:: Blue Ice