SMN1: Target/Biomarker Introduction, products summarized (antibody/ADC/bispecific/antigen/ORF vector/VLP) and disease/indication/condition/MOA for drug discovery and IVD
It's the GeneMedi's summary page for Target/Biomarker Introduction of SMN1. The page also collects GeneMedi's different modalities and formats products for SMN1 in therapeutics/drug discovery and IVD diagnostics, which is including antibody, ADC, bispecific, antigen, ORF vector, VLP, etc. With GeneMedi's target-insight database-GM ITD database, the SMN1 target is also connected to human indications/diseases/conditions/MOA.
Target sublocation: Introcelluar Protein.
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. Multiple transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2014]
|Gene Official Name||SMN1|
|Gene Alias||BCD541, GEMIN1, SMA, SMA1, SMA2, SMA3, SMA4, SMA@, SMN, SMNT, T-BCD541, TDRD16A|
|Protein Sub-location||Introcelluar Protein|
Pre-made anti-SMN1 monoclonal antibody(mab)-benchmark antibody for ELISA, affinity binding assay, drug discovery and mechanism of action (MOA) research.
Pre-made anti-SMN1 monoclonal antibody(mab) is expressed by mammalian cell line as a benchmark antibody for cell culture, ELISA or other affinity binding assay or functional assay development, animal model development, PK/PD model development (Pharmacokinetics & Pharmacodynamic). The anti-SMN1 mab is expressed and produced by mammalian cell line as a benchmark reference therapeutic antibody for biological drug discovery items including cell culture, assay development, animal model development, PK/PD model development (Pharmacokinetics & Pharmacodynamic) and mechanism of action (MOA) research.
|Cat No.||Antibody Name||Format||Classified by tag||Order|
|GM-Tg-hg-T71907-Ab||Anti-SMN1 monoclonal antibody||mab||Therapeutics Target antibody|