SEPSECS
Function
Converts O-phosphoseryl-tRNA(Sec) to selenocysteinyl-tRNA(Sec) required for selenoprotein biosynthesis.
Involvement in disease
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.
None
The disease is caused by variants affecting the gene represented in this entry.
Pathway
Aminoacyl-tRNA biosynthesis; selenocysteinyl-tRNA(Sec) biosynthesis; selenocysteinyl-tRNA(Sec) from L-seryl-tRNA(Sec) (archaeal/eukaryal route): step 2/2.
Sequence Similarities
Belongs to the SepSecS family.
Tissue Specificity
Primarily expressed in liver, pancreas, kidney and lung. Overexpressed in PHA-stimulated T-cells.
Cellular localization
- Cytoplasm
Alternative names
TRNP48, SEPSECS, O-phosphoseryl-tRNA(Sec) selenium transferase, Liver-pancreas antigen, SLA-p35, SLA/LP autoantigen, Selenocysteine synthase, Selenocysteinyl-tRNA(Sec) synthase, Sep-tRNA:Sec-tRNA synthase, Soluble liver antigen, UGA suppressor tRNA-associated protein, tRNA(Ser/Sec)-associated antigenic protein, LP, Sec synthase, SepSecS, SLA