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The protein encoded by this gene is similar to Saccharomyces cerevisiae LYS5, which is required for the activation of the alpha-aminoadipate dehydrogenase in the biosynthetic pathway of lysine. Yeast alpha-aminoadipate dehydrogenase converts alpha-biosynthetic-aminoadipate semialdehyde to alpha-aminoadipate. It has been suggested that defects in the human gene result in pipecolic acidemia.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: 4'-phosphopantetheinyl transferase; AASD-PPT; Alpha-aminoadipic semialdehyde dehydrogenase-phosphopantetheinyl transferase; DKFZp566E2346; holo ACP synthase; holo-[acyl-carrier-protein] synthase; L-aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase; LYS5 ortholog
基因别名: AASD-PPT; AASDHPPT; ACPS; CGI-80; HAH-P; HSPC223; LYS2; LYS5; x0005
UniProt ID: (Human) Q9NRN7
Entrez Gene ID: (Human) 60496