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簡(jiǎn)要描述：This gene encodes a member of the pterin-4-alpha-carbinolamine dehydratase family. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. The encoded protein functions as both a dehydratase involved in tetrahydrobiopterin biosynthesis, and as a cofactor for HNF1A-dependent transcription. A deficiency of this enzyme leads to hyperphenylalaninemia. Alternative splicing results in multiple transcript variants. [provide
產(chǎn)品型號(hào)：bsm-62561R廠商性質(zhì)：生產(chǎn)廠家更新時(shí)間：2025-03-04訪 問(wèn) 量： 168產(chǎn)品分類
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