SEPSECS Blocking Peptide

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).[provided by RefSeq, Mar 2011]

SLA/LP: Converts O-phosphoseryl-tRNA(Sec) to selenocysteinyl- tRNA(Sec) required for selenoprotein biosynthesis. Defects in SEPSECS are the cause of pontocerebellar hypoplasia type 2D (PCH2D). PCH2D is a disorder characterized by postnatal onset of progressive atrophy of the cerebrum and cerebellum, microcephaly, profound mental retardation, spasticity, and variable seizures. Belongs to the SepSecS family. 3 isoforms of the human protein are produced by alternative splicing.

Protein type: EC 2.9.1.2; Transferase; RNA-binding

Chromosomal Location of Human Ortholog: 4p15.2

Cellular Component: cytoplasm; nucleus

Molecular Function: protein binding; transferase activity, transferring selenium-containing groups; tRNA binding; pyridoxal phosphate binding

Biological Process: selenocysteine incorporation

Disease: Pontocerebellar Hypoplasia, Type 2d