Anti-SMN1 monoclonal antibody, clone 6I2

Clone

6I2

Species Reactivity

Human

Immunogen

Recombinant protein corresponding to human SMN1.

Conjugate

Application Notes

ELISA (1:10000); WB (1:500-1:2000); Immunohistochemistry (1:200-1:1000); Immunofluorescence (1:200-1:1000) & The optimal working dilution should be determined by the end user.

Alternative Names

SMN1; survival of motor neuron 1, telomeric; SMA, SMA@, spinal muscular atrophy (Werdnig Hoffmann disease, Kugelberg Welander disease); survival motor neuron protein; BCD541; SMA1; SMA2; SMA3; SMNT; gemin 1; gemin-1; component of gems 1; SMA; SMN; SMA4; S

Entrez Gene ID

UniProt ID

Antigen Description

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.

Pathway

Gene Expression, organism-specific biosystem; Metabolism of non-coding RNA, organism-specific biosystem; RNA transport, organism-specific biosystem; RNA transport, conserved biosystem; Survival motor neuron (SMN) complex, organism-specific biosystem; snRNP Assembly, organism-specific biosystem;