EEFSEC across dismech

EEFSEC (eukaryotic elongation factor, selenocysteine-tRNA specific) is named by 1 disorder entry, EEFSEC Deficiency.

Normal function

ai-gene-review gives EEFSEC's core molecular functions as GTPase activity; tRNA binding; and translation elongation factor activity, acting in selenocysteine incorporation. eEFSec is the dedicated elongation factor that delivers selenocysteinyl-tRNA(Sec) to the ribosome at in-frame UGA codons during selenoprotein synthesis. The upstream gene review is being completed; changes made there reach this page only when the ingest layer is next refreshed.

Disease record

EEFSEC Deficiency types the gene as causative and records the variants as germline. The gene sits on the node EEFSEC-dependent Sec-tRNA elongation defect, from which the pathograph runs through reduced selenoprotein levels to progressive neurodegeneration with cerebellar involvement.

Where the layers agree and disagree

The KB annotates EEFSEC's mechanism node with the processes selenocysteine incorporation; and translational elongation, and shares selenocysteine incorporation with the ai-gene-review core functions by exact GO identifier. The broader "translational elongation" term on the node is a parent of the elongation step the gene review describes, not a disagreement.

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