Anti-Human/Mouse SMN1 Monoclonal Antibody

Spinal muscular atrophy (SMA) is an autosomal recessive neurodegenerative disease characterized by loss of anterior horn cells in the spinal cord and concomitant symmetrical muscle weakness and atrophy . SMA is caused by deletion or mutations of the survival motor neuron (SMN1) gene. SMA patients lack a functional SMN1 gene,but they possess an intact SMN2 gene,which though nearly identical to SMN1,is only partially functional . A large majority of SMN2 transcripts lack exon 7,resulting in production of a truncated,less stable SMN protein . The level of SMN protein correlates with phenotypic severity of SMA. This antibody,raised against the C-ternimal region (275-294aa) encoded by the exon 7.