Thermo Fisher Scientific SMN2 Polyclonal Antibody

Applications and Tested Dilutions

Product Specifications

Target Information

This gene is part of a 500 kb inverted duplication on chromosome 5q13. This duplicated region contains at least four genes and repetitive elements, making it prone to rearrangements and deletions. 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 the centromeric copy do not lead to disease. The gene may act as 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, thought to function as an exon splice enhancer. Gene conversion events may occur between the two genes, leading to varying copy numbers. The full-length protein localizes to both cytoplasm and nucleus, particularly in subnuclear bodies called gems, near coiled bodies containing snRNPs. It forms complexes with proteins such as SIP1 and GEMIN4 and interacts with proteins involved in snRNP biogenesis, including hnRNP U and small nucleolar RNA binding proteins. Four transcript variants encoding distinct isoforms have been described.

For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.