當(dāng)前位置:首頁 > 產(chǎn)品中心 > 抗體/抗原 > 一抗 > bs-1907R細(xì)胞酪氨酸轉(zhuǎn)氨酶抗體
簡要描述:This nuclear gene encodes a mitochondrial protein tyrosine aminotransferase which is present in the liver and catalyzes the conversion of L-tyrosine into p-hydroxyphenylpyruvate. Mutations in this gene cause tyrosinemia (type II, Richner-Hanhart syndrome), a disorder accompanied by major skin and corneal lesions, with possible mental retardation. A regulator gene for tyrosine aminotransferase is X-linked.
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