Backofen Bianca, Leeb Tosso
Institute of Animal Breeding and Genetics, School of Veterinary Medicine Hannover, Bünteweg 17p, 30559 Hannover, Germany.
DNA Seq. 2002 Aug;13(4):179-83. doi: 10.1080/1042517021000021572.
Aminomethyltransferase (Amt), also called glycine cleavage system T-protein is an important enzyme in glycine metabolism (EC 2.1.2.10). Mutations in this gene in humans lead to nonketotic hyperglycinemia, a fatal Mendelian disease. Here, we report the cloning and sequencing of the murine Amt gene. The murine Amt gene consists of nine closely spaced exons that are contained within approximately 5 kb of genomic DNA. It encodes a protein of 403 amino acids that is highly homologous to other mammalian aminomethyltransferases. The cis-acting promoter of the Amt gene is likely to be very short as immediately upstream of the murine Amt gene another gene termed Nicolin 1 gene (Nicn1) is located.
氨基甲基转移酶（Amt），也称为甘氨酸裂解系统T蛋白，是甘氨酸代谢中的一种重要酶（EC 2.1.2.10）。人类该基因突变会导致非酮症高甘氨酸血症，这是一种致命的孟德尔疾病。在此，我们报告小鼠Amt基因的克隆和测序。小鼠Amt基因由九个紧密排列的外显子组成，这些外显子包含在约5 kb的基因组DNA中。它编码一种由403个氨基酸组成的蛋白质，该蛋白质与其他哺乳动物的氨基甲基转移酶高度同源。Amt基因的顺式作用启动子可能非常短，因为在小鼠Amt基因的紧邻上游定位着另一个名为Nicolin 1基因（Nicn1）的基因。
