SEPN1

Selenoprotein N is a is_associated_with::protein that in humans is encoded by the SEPN1 is_associated_with::gene.

Function
This gene encodes a selenoprotein, which contains a selenocysteine (Sec) residue at its active site. The selenocysteine is encoded by the UGA codon that normally signals translation termination. The 3' UTR of selenoprotein genes have a common stem-loop structure, the sec insertion sequence (SECIS), that is necessary for the recognition of UGA as a Sec codon rather than as a stop signal. 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.

Model organisms
is_associated_with::Model organisms have been used in the study of SEPN1 function. A conditional is_associated_with::knockout mouse line, called Sepn1tm1a(KOMP)Wtsi was generated as part of the is_associated_with::International Knockout Mouse Consortium program — a high-throughput mutagenesis project to generate and distribute animal models of disease to interested scientists.

Male and female animals underwent a standardized is_associated_with::phenotypic screen to determine the effects of deletion. Twenty five tests were carried out on homozygous is_associated_with::mutant mice and one significant abnormality was observed: than animals displayed is_associated_with::vertebral fusion.