Natt E, Kao F T, Rettenmeier R, Scherer G
Hum Genet. 1986 Mar;72(3):225-8. doi: 10.1007/BF00291882.
The liver enzyme tyrosine aminotransferase (TAT; EC 2.6.1.5) catalyzes the rate-limiting step in the catabolic pathway of tyrosine. Deficiency in TAT enzyme activity underlies the autosomally inherited disorder tyrosinemia II (Richner-Hanhart syndrome). Using a human TAT cDNA clone as hybridization probe, we have determined the chromosomal location of the TAT structural gene by Southern blot analysis of DNAs from a series of human X rodent somatic cell hybrids. The results assign the TAT gene to human chromosome 16.
肝脏酶酪氨酸转氨酶(TAT;EC 2.6.1.5)催化酪氨酸分解代谢途径中的限速步骤。TAT酶活性缺乏是常染色体隐性遗传疾病酪氨酸血症II型(Richner-Hanhart综合征)的病因。我们使用人类TAT cDNA克隆作为杂交探针,通过对一系列人类X啮齿动物体细胞杂种的DNA进行Southern印迹分析,确定了TAT结构基因的染色体定位。结果将TAT基因定位于人类16号染色体。