The eef1a2 gene encodes a cytoplasmic GTP-binding translation elongation factor responsible for the enzymatic delivery of aminoacyl-tRNA to the ribosome during protein synthesis. Its expression is mate...[+]

The eef1a2 gene encodes a cytoplasmic GTP-binding translation elongation factor responsible for the enzymatic delivery of aminoacyl-tRNA to the ribosome during protein synthesis. Its expression is maternal, present in oocytes, eggs, and throughout early embryonic development including blastula, gastrula, neurula, and tailbud stages, with later specific localization to tissues such as the brain, eye, branchial arches, heart, somites, pronephros, and limb buds. [-]

             autosomal dominant intellectual developmental disorder 38

          INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 38; MRD38

ClinVar, ClinGen, MalaCards, KEGG Disease, DECIPHER, COSMIC, MARRVEL, GTR, DisGeNET, dbVAR, GHR, gnomAD