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  Domain Name: ALDH_P5CDH
ALDH subfamily NAD+-dependent delta(1)-pyrroline-5-carboxylate dehydrogenase-like. ALDH subfamily of the NAD+-dependent, delta(1)-pyrroline-5-carboxylate dehydrogenases (P5CDH, EC=1.5.1.12). The proline catabolic enzymes, proline dehydrogenase and P5CDH catalyze the two-step oxidation of proline to glutamate. P5CDH catalyzes the oxidation of glutamate semialdehyde, utilizing NAD+ as the electron acceptor. In some bacteria, the two enzymes are fused into the bifunctional flavoenzyme, proline utilization A (PutA). These enzymes play important roles in cellular redox control, superoxide generation, and apoptosis. In certain prokaryotes such as Escherichia coli, PutA is also a transcriptional repressor of the proline utilization genes. Monofunctional enzyme sequences such as those seen in the Bacillus RocA P5CDH are also present in this subfamily as well as the human ALDH4A1 P5CDH and the Drosophila Aldh17 P5CDH.
No pairwise interactions are available for this conserved domain.

Total Mutations Found: 89
Total Disease Mutations Found: 51
This domain occurred 18 times on human genes (32 proteins).



  ALCOHOL DEPENDENCE, PROTECTION AGAINST, INCLUDED;;
  ALCOHOL SENSITIVITY, ACUTE
  EPILEPSY, PYRIDOXINE-DEPENDENT
  HANGOVER, SUSCEPTIBILITY TO, INCLUDED;;|
  HYPERPROLINEMIA, TYPE II
  METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY
  MICROPHTHALMIA, ISOLATED 8
  SJOEGREN-LARSSON SYNDROME (SLS)
  SJOGREN-LARSSON SYNDROME
  SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY


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Range on the Protein:  

   Protein ID            Protein Position

Domain Position:  


Feature Name:Total Found:
NAD binding site
Glutamate binding site
catalytic residues





















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Please Cite: Peterson, T.A., Adadey, A., Santana-Cruz ,I., Sun, Y., Winder A, Kann, M.G., (2010) DMDM: Domain Mapping of Disease Mutations. Bioinformatics 26 (19), 2458-2459.

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