SCNM1 Antibody (N-term) Blocking Peptide

SCNM1 is a zinc finger protein and putative splicing factor that modifies phenotypic expression of Scn8a mutations in mouse models. Phylogenetic comparison of zinc finger sequences placed SCNM1 within the U1C subfamily of RNA binding proteins that are commonly found in RNA-processing proteins. The SCNM1 protein is localized exclusively to the nucleus. Mutations in the mouse Scn8a gene cause inherited movement disorders that range in severity from tremor to ataxia, dystonia, and juvenile lethality. The severity of the hypomorphic allele Scn8a(medJ) is determined by the unlinked modifier gene Scnm1. The modifier mutation, R187X, is characteristic of strain C57BL/6J and reduces the abundance of correctly spliced sodium channel transcripts below the threshold for survival. Mice with the Scn8a(medJ) mutation on any strain except C57BL/6J have 10% of Scn8a transcript correctly spliced and develop a progressive disorder with dystonia and ataxia but live longer than 1.5 years. The same mutation on a C57BL/6J background results in only 5% of correctly spliced transcript, leading to paralysis and survival less than one month.

100534012; 79005

Synthetic peptide