SEPSECS across dismech

SEPSECS (Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase) is named by 1 disorder entry, SEPSECS Deficiency.

Normal function

ai-gene-review gives SEPSECS's core molecular functions as O-phosphoseryl-tRNA(Sec) selenium transferase activity; pyridoxal phosphate binding; and tRNA binding, acting in L-selenocysteine biosynthetic process; and conversion of seryl-tRNAsec to selenocys-tRNAsec. SEPSECS is the pyridoxal phosphate-dependent enzyme that completes selenocysteine synthesis on its tRNA, converting phosphoseryl-tRNA(Sec) to selenocysteinyl-tRNA(Sec). The upstream gene review is being completed; changes made there reach this page only when the ingest layer is next refreshed.

Disease record

SEPSECS Deficiency types the gene as causative and records the variants as germline. The gene sits on the node SEPSECS Sec-tRNA synthesis defect, from which the pathograph runs through failed selenoprotein generation to cerebellocerebral neurodevelopmental injury.

Where the layers agree and disagree

The KB annotates SEPSECS's mechanism node with L-selenocysteine biosynthetic process; and conversion of seryl-tRNAsec to selenocys-tRNAsec, and every one of these is shared with the ai-gene-review core functions by exact GO identifier (L-selenocysteine biosynthetic process; and conversion of seryl-tRNAsec to selenocys-tRNAsec).

ClinGen classifies SEPSECS for 0 diseases, so the entry records no gene-disease validity tier.