SMN2

gene product
BCD541, GEMIN1, SMNC, TDRD16B
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. While mutations in the telomeric copy are associated with spinal muscular atrophy, mutations in this gene, the centromeric copy, do not lead to disease. This gene 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 full length 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. Four transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Sep 2008]
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205 antibodies from 29 providers.

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AntibodyRefsTypeWBELICCIPIHCFC
Proteintech Group
5 antibodies
Biorbyt
26 antibodies
Acris Antibodies GmbH
7 antibodies
Abnova Corporation
8 antibodies
Novus Biologicals
4 antibodies
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5 antibodies
LifeSpan BioSciences, Inc.
3 antibodies
antibodies-online
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NSJ Bioreagents
2 antibodies
Santa Cruz Biotechnology
1 antibody
Boster Biological Technology
3 antibodies
Cell Signaling Technology, Inc
1 antibody
Enzo Life Sciences
2 antibodies
GeneTex
2 antibodies
RabMAbs
3 antibodies
Affinity Biosciences
1 antibody
Bioworld Technology, Inc
1 antibody
Creative Biolabs
6 antibodies
Aviva Systems Biology
3 antibodies
GenWay
2 antibodies
Everest Biotech
1 antibody
OriGene
1 antibody
United States Biological
44 antibodies
ProSci
4 antibodies
Sigma-Aldrich
3 antibodies
RayBiotech, Inc.
1 antibody
EMD Millipore
8 antibodies
Creative Diagnostics
2 antibodies
MyBioSource
1 antibody