|Full Name||survival of motor neuron 1, telomeric|
|Product Description||Rabbit Polyclonal antibody to SMN1 (survival of motor neuron 1, telomeric)|
|Background||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 the two genes, leading to varying copy numbers of each gene. The protein encoded by this gene localizes to both the cytoplasm and the nucleus. Within the nucleus, the protein localizes to subnuclear bodies called gems which are found near coiled bodies containing high concentrations of small ribonucleoproteins (snRNPs). This protein forms heteromeric complexes with proteins such as SIP1 and GEMIN4, and also interacts with several proteins known to be involved in the biogenesis of snRNPs, such as hnRNP U protein and the small nucleolar RNA binding protein. Two transcript variants encoding distinct isoforms have been described. [provided by RefSeq]|
|Synonyms||BCD541 antibody, SMA antibody, SMA1 antibody, SMA2 antibody, SMA3 antibody, SMA4 antibody, SMA@ antibody, SMN antibody, SMN2 antibody, SMNT antibody, T-BCD541 antibody, SMN1 antibody, component of gems 1 antibody, gemin-1 antibody, gemin 1 antibody, survival motor neuron protein antibody, "survival of motor neuron 1, telomeric antibody"|
|Immunogen||Recombinant protein encompassing a sequence within the center region of human SMN1. The exact sequence is proprietary.|
|Predicted Cross Reactivity species Predicted cross-reactivity:|
Predicted cross-reactivity is based on sequence homology, with greater than 80% immunogen sequence identity considered positive.
Please note that we are only able to guarantee products to work in applications and species in which they have been tested.
|Pig, Rhesus Monkey|
|Predict Reactivity Note||Pig (88%), Rhesus Monkey (96%)|