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gene: EEF1A1

id1915
symbolEEF1A1
organismHomo sapiens
full nameeukaryotic translation elongation factor 1 alpha 1
summaryThis 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 1) is expressed in brain, placenta, lung, liver, kidney, and pancreas, and the other isoform (alpha 2) is expressed in brain, heart and skeletal muscle. This isoform is identified as an autoantigen in 66% of patients with Felty syndrome. This gene has been found to have multiple copies on many chromosomes, some of which, if not all, represent different pseudogenes. [provided by RefSeq, Jul 2008]
variant-disease

GRCh38/hg38 6q13(chr6:73479920-74931870)x1 AND See cases

GRCh37/hg19 6q13-14.2(chr6:73674612-84829774)x1 AND not provided

GRCh38/hg38 6q12-14.2(chr6:64549655-83426791)x1 AND See cases

GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367) AND not provided

GRCh37/hg19 6p25.3-q27(chr6:108666-170980171)x3 AND not provided

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