菜单 基因医生

这个基因编码延伸因子-1复合物的α亚单位的一个亚型，它负责氨基酰tRNA的酶传递到核糖体。这种亚型（α1）在脑、胎盘、肺、肝、肾和胰腺中表达，另一种亚型（α2）在脑、心脏和骨骼肌中表达。在66%的重罪综合征患者中，这种亚型被鉴定为自身抗原。这个基因在许多染色体上被发现有多个拷贝，其中一些，如果不是全部的话，代表不同的假基因。[由RefSeq提供，2008年7月]
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 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]