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簡(jiǎn)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.
產(chǎn)品型號(hào):bs-1907R
廠(chǎng)商性質(zhì):生產(chǎn)廠(chǎng)家
更新時(shí)間:2025-02-26
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