Spinal muscular atrophy (SMA) is a common fatal autosomal recessive disorder characterized by the degeneration of motor neurons and muscular atrophy. A gene called Survival of Motor Neurons (SMN) has been identified as the determining gene in SMA and is deleted or mutated in greater than 98% of SMA patients. The SMN protein localizes to both the cytoplasm and the nucleus. In the nucleus, SMN has been found to localize in a nuclear structure termed gems for Gemini of coiled bodies, which contain high levels of small ribonucleoproteins (snRNPs). SMN forms complexes with proteins including SIP1, Gemin 2-7 and several others known to be involved in the biogenesis of snRNPs. SMN antibodies may serve as a useful research tool to study SMN complexes and gems, and their role in pre-RNA processing and RNA metabolism.
This SMN Antibody (2B1) is useful for Immunocytochemistry/Immunofluorescence, Immunohistochemistry on paraffin-embedded sections, Flow Cytometry, Immunoprecipitation and Western blot where a band can be seen at ~ 35 kDa. Use in ELISA reported in scientific literature (PMID 23973875)
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