ⓘ AASDHPPT

                                     

ⓘ AASDHPPT

L-aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase is an enzyme that in humans is encoded by the AASDHPPT gene.

The protein encoded by this gene similar to Saccharomyces cerevisiae LYS5, which is required for activation of alpha-aminoadipate dehydrogenase in the path of the biosynthesis of lysine. Yeast alpha-aminoadipate dehydrogenase converts alpha-biosynthetic-aminoadipate semialdehyde to alpha-aminoadipate. It has been suggested that defects in the human genome that result in pipecolic acidemia.

                                     
  • pipecolic acid levels in the blood, leading to neuropathy and hepatomegaly. AASDHPPT PHYH Online Mendelian Inheritance in Man OMIM 239400 Online Mendelian
  • FGFR1, FGFR2 dominant Phenylketonuria PAH recessive Pipecolic acidemia AASDHPPT recessive Pitt Hopkins syndrome TCF4 18 dominant, de novo Polycystic