🧬 基因注释：PRPS1L1
📝 官方信息
官方名称：phosphoribosyl pyrophosphate synthetase 1 like 1
功能摘要：This intronless gene is specifically expressed in the testis, and encodes a protein that is highly homologous to the two subunits of phosphoribosylpyrophosphate synthetase encoded by human X-linked genes, PRPS1 and PRPS2. These enzymes convert pyrimidine, purine or pyridine bases to the corresponding ribonucleoside monophosphates. In vitro transcription/translation and site-directed mutagenesis studies indicate that translation of this mRNA initiates exclusively at a non-AUG (ACG) codon. [provided by RefSeq, Jul 2008].
🏥 关联疾病
该基因暂无关联疾病记录