InterPro domain: IPR033570
General Information
- Identifier IPR033570
- Description Sodium channel modifier 1
- Number of genes 61
- Gene duplication stats Loading...
- Associated GO terms GO:0008380
Abstract
SCNM1 (sodium channel modifier 1) is an accessory component of the U1 splicesome protein complex. It interacts with the spliceosomal Sm and U1-70K proteins and has a direct role in splicing [ 1 ]. It was originally identified as a disease modifier gene required for efficient splicing of a mutant splice donor site in the sodium channel Scn8a [ 2 ].
1. Evidence for a direct role of the disease modifier SCNM1 in splicing. Hum. Mol. Genet. 16, 2506-16
2. SCNM1, a putative RNA splicing factor that modifies disease severity in mice. Science 301, 967-9
Species distribution
Gene table
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