EEF1A2 gene

eukaryotic translation elongation factor 1 alpha 2

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

This gene encodes an isoform of the alpha subunit of the elongation factor-1 complex, which is responsible for the enzymatic delivery of aminoacyl tRNAs to the ribosome. This isoform (alpha 2) is expressed in brain, heart and skeletal muscle, and the other isoform (alpha 1) is expressed in brain, placenta, lung, liver, kidney, and pancreas. This gene may be critical in the development of ovarian cancer. [provided by RefSeq, Mar 2014]

From UniProt:

This protein promotes the GTP-dependent binding of aminoacyl-tRNA to the A-site of ribosomes during protein biosynthesis.

From NCBI Gene:

  • Epileptic encephalopathy, early infantile, 33
  • Mental retardation, autosomal dominant 38

From UniProt:

Mental retardation, autosomal dominant 38 (MRD38): A form of mental retardation, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRD38 common features are severe intellectual disability, autistic behavior, absent speech, neonatal hypotonia, epilepsy and progressive microcephaly. [MIM:616393]

Epileptic encephalopathy, early infantile, 33 (EIEE33): A form of epileptic encephalopathy, a heterogeneous group of severe childhood onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. [MIM:616409]

Cytogenetic Location: 20q13.33, which is the long (q) arm of chromosome 20 at position 13.33

Molecular Location: base pairs 63,488,012 to 63,499,315 on chromosome 20 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 20q13.33, which is the long (q) arm of chromosome 20 at position 13.33
  • EEF1AL
  • EF-1-alpha-2
  • EF1A
  • EIEE33
  • HS1
  • MRD38
  • STN
  • STNL