菜单 基因医生

核糖体是催化蛋白质合成的细胞器,由一个小的40s亚基和一个大的60s亚基组成。这些亚基由4种RNA和大约80种结构上不同的蛋白质组成。这个基因编码一种细胞质核糖体蛋白,它是60S亚单位的一个组成部分该蛋白属于核糖体蛋白L22E家族其起始的蛋氨酸残基在翻译后被去除。该蛋白能与EBERs(EBERs)1和2特异性结合小鼠蛋白已被证明能与肝素结合。存在利用替代波利亚信号的转录变体。作为编码核糖体蛋白的典型基因,有多个经过处理的假基因散布在基因组中。先前认为该基因定位于3q26,在一些有3;21易位的治疗相关骨髓增生异常综合征患者中,它与位于21q22的急性髓系白血病1(AML1)基因融合;然而,这些融合实际上涉及位于3q26的核糖体蛋白L22假基因这个基因实际上定位于1p36.3-p36.2。[由RefSeq提供,2008年7月]
Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a cytoplasmic ribosomal protein that is a component of the 60S subunit. The protein belongs to the L22E family of ribosomal proteins. Its initiating methionine residue is post-translationally removed. The protein can bind specifically to Epstein-Barr virus-encoded RNAs (EBERs) 1 and 2. The mouse protein has been shown to be capable of binding to heparin. Transcript variants utilizing alternative polyA signals exist. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. It was previously thought that this gene mapped to 3q26 and that it was fused to the acute myeloid leukemia 1 (AML1) gene located at 21q22 in some therapy-related myelodysplastic syndrome patients with 3;21 translocations; however, these fusions actually involve a ribosomal protein L22 pseudogene located at 3q26, and this gene actually maps to 1p36.3-p36.2. [provided by RefSeq, Jul 2008]

基因名:RPL22
别名:EAP,L22,HBP15,HBP15/L22
基因ID:6146
Chromosome:
(GRCh37)
1 Start: 6245080 End: 6259679 Strand: 
信号通路:  
RPL22 基因突变与药物