Gene Symbol | EEF1A2 |
Entrez Gene ID | 1917 |
Full Name | eukaryotic translation elongation factor 1 alpha 2 |
Synonyms | EEF1AL,EF-1-alpha-2,EF1A,EIEE33,HS1,MRD38,STN,STNL |
General protein information |
|
Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Mental retardation, autosomal dominant 38, 616393 (3); Epileptic encephalopathy, early infantile, 33, 616409 (3) |