Primary Identifier | IPR033570 | Type | Family |
Short Name | SCNM1 |
description | 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 []. It was originally identified as a disease modifier gene required for efficient splicing of a mutant splice donor site in the sodium channel Scn8a []. |