基因名：
SPI1
产品别名：
AGM10； OF； PU.1； SFPI1； SPI-1； SPI-A； SPI1； Spi-1 proto-oncogene； Spi-1 proto-oncogene； transcription factor PU.1； 31 kDa transforming protein； hematopoietic transcription factor PU.1； spleen focus forming virus (SFFV) proviral integration oncogene spi1； 脾脏病灶病毒前病毒整合原癌基因(SPI1)； 造血转录因子PU.1；
背景信息：
The enzyme encoded by this gene catalyzes the elimination of inorganic triphosphate from dihydroneopterin triphosphate, which is the second and irreversible step in the biosynthesis of tetrahydrobiopterin from GTP. Tetrahydrobiopterin, also known as BH(4), is an essential cofactor and regulator of various enzyme activities, including enzymes involved in serotonin biosynthesis and NO synthase activity. Mutations in this gene result in hyperphenylalaninemia. [provided by RefSeq, Oct 2008]
