gopubmed logo
 
find other proteinsAll proteins
GoPubMed Proteins lists recent and important papers and reviews for proteins. Page last changed on 08 Dec 2016.

Sodium channel modifier 1

Scnm1, sodium channel modifier 1, sodium channel modifier Scnm1
Mutations in the voltage-gated sodium channel gene Scn8a lead to neurological problems in mice. For one particular mutation, Scn8amedJ, mice live to adulthood but have tremors and muscle weakness, among other problems, in all strains except those derived from C57BL6 mice. In these strains, the product of the Scnm1 gene (229 aa) partially overcomes the effects of the Scn8amedJ mutation. However, in C57BL6-derived mice, a one nt change in the penultimate exon creates a premature stop codon, truncating the Scnm1 protein at 186 aa. This truncated protein lacks the ability to overcome the effects of the Scn8amedJ mutation, and these mice suffer paralysis and juvenile death. [provided by RefSeq, Jul 2009] (from NCBI)
Top mentioned proteins: Omi, ACID, iMpact, 14-3-3zeta, HAD
Papers on Scnm1
Clinical and genetic analysis of a family with two rare reflex epilepsies.
New
Koeleman et al., Utrecht, Netherlands. In Seizure, Jul 2015
All photosensitive family members shared a heterozygous R129C mutation in the SCNM1 gene that regulates splicing of voltage gated ion channels.
Regulation of IL2 and NUCB1 in mononuclear cells treated with acyl glucuronide of mycophenolic acid reveals effects independent of inosine monophosphate dehydrogenase inhibition.
Shipkova et al., Göttingen, Germany. In Ther Drug Monit, 2009
SCNM1, ANP32E, CXCL13, CALM1, DKFZp451J0118, TPM3, CDC42, YWHAE, CXCL3, RDX, NDUFA3, and SOD1 showed no significant difference between the studied groups (P > 0.05).
A targeted deleterious allele of the splicing factor SCNM1 in the mouse.
Meisler et al., Ann Arbor, United States. In Genetics, 2008
The auxiliary spliceosomal protein SCNM1 contributes to recognition of nonconsensus splice donor sites.
Evidence for a direct role of the disease modifier SCNM1 in splicing.
GeneRIF
Meisler et al., Ann Arbor, United States. In Hum Mol Genet, 2007
Scnm1 is the first example of a modifier gene which influences disease severity through a trans-effect on splicing of the disease gene transcript.
High-resolution mapping of the sodium channel modifier Scnm1 on mouse chromosome 3 and identification of a 1.3-kb recombination hot spot.
GeneRIF
Meisler et al., Ann Arbor, United States. In Genomics, 2003
Variation between inbred strains of mice can be used to identify modifier genes affecting the susceptibility to inherited disease. The severity of the neurological disorder is determined by the modifier locus Scnm1.
SCNM1, a putative RNA splicing factor that modifies disease severity in mice.
Impact
Meisler et al., Ann Arbor, United States. In Science, 2003
The modifier mutation is characteristic of strain C57BL/6Jand introduces a nonsense codon into sodium channel modifier 1 (SCNM1), a zinc finger protein and a putative splice factor.
TSRC1, a widely expressed gene containing seven thrombospondin type I repeats.
Meisler et al., Ann Arbor, United States. In Gene, 2003
Three conserved noncoding sequence elements with potential regulatory function are located in intron 1. Mouse Tsrc1 was genetically mapped to chromosome 3 within the nonrecombinant region for the sodium channel modifier locus Scnm1.
Molecular and pathological effects of a modifier gene on deficiency of the sodium channel Scn8a (Na(v)1.6).
Meisler et al., Ann Arbor, United States. In Hum Mol Genet, 2002
We previously reported that the phenotype of the hypomorphic allele of Scn8a, medJ, is dependent upon an unlinked modifier locus, Scnm1.
Dystonia associated with mutation of the neuronal sodium channel Scn8a and identification of the modifier locus Scnm1 on mouse chromosome 3.
Meisler et al., Ann Arbor, United States. In Hum Mol Genet, 1999
This new model suggests that SCN8A on chromosome 12q13 and SCNM1 on chromosome 1p21-1q21 may contribute to human inherited dystonia.
share on facebooktweetadd +1mail to friends