Gene:
selenoprotein N, 1
Gene ID:
195323
Symbol:
SEPN1
Species:
1000
Description:
This gene encodes a selenoprotein containing selenocysteine at the active site. The selenocysteine is encoded by the usual stop codon UGA. Mutations in this gene cause the classical phenotype of multiminicore disease and congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene.