SEPSECS

SEPSECS encodes selenocysteine synthase, a core enzyme in selenoprotein biosynthesis. This protein catalyzes the conversion of serine-charged tRNA(Sec) to selenocysteine-charged tRNA(Sec) by replacing serine’s hydroxyl group with selenide, using pyridoxal 5'-phosphate as a cofactor. Common aliases include SEPSEC and selenocysteine synthase 1.
Dysfunction of SEPSECS disrupts selenoprotein production, linking to neurodegenerative conditions like progressive cerebello-cerebral atrophy and spinal muscular atrophy with cerebellar atrophy. Current research explores selenium supplementation as supportive therapy, while preclinical studies investigate targeted modulators of the selenoprotein biosynthetic pathway for related disorders.