SEPSECS

The amino acid selenocysteine is the only amino acid that does not have its own tRNA synthetase. Instead, this amino acid is synthesized on its cognate tRNA in a three step process. The protein encoded by this gene catalyzes the third step in the process, the conversion of O-phosphoseryl-tRNA(Sec) to selenocysteinyl-tRNA(Sec).

Sep (O-Phosphoserine) TRNA:Sec (Selenocysteine) TRNA Synthase

Converts O-phosphoseryl-tRNA(Sec) to selenocysteinyl-tRNA(Sec) required for selenoprotein biosynthesis.

Biological Process selenocysteine incorporationISS:HGNC-UCL
Biological Process selenocysteinyl-tRNA(Sec) biosynthetic processIEA:UniProtKB-UniPathway

Cytoplasm

Pontocerebellar hypoplasia 2D (PCH2D):
A disorder characterized by postnatal onset of progressive atrophy of the cerebrum and cerebellum, microcephaly, profound intellectual disability, spasticity, and variable seizures.