Gene Symbol | AASDHPPT |
Entrez Gene ID | 60496 |
Full Name | aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase |
Synonyms | AASD-PPT,ACPS,CGI-80,LYS2,LYS5 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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. [provided by RefSeq, Jul 2008]. |
Disorder MIM: |