Abnova™ Human SMN2 Partial ORF (NP_059107, 191 a.a. - 294 a.a.) Recombinant Protein with GST-tag at N-terminal

Description

This gene is part of a 500kb inverted duplication on chromosome 5q13 which contains at least 4 genes and repetitive elements which make it prone to rearrangements and deletions. The repetitiveness and complexity of 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 telomeric copy are associated with spinal muscular atrophy, the centromeric copy do not lead to disease. This gene may be a modifier of disease caused by mutation in telomeric copy. The critical seq difference between two genes is a single nucleotide in exon 7, which is thought to be an exon splice enhancer. 9 exons of both 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 cytoplasm and nucleus. Within the nucleus, the protein localizes to subnuclear bodies called gems found near coiled bodies containing high concentrations of 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.