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  Domain Name: ALDH_PutA-P5CDH
Delta(1)-pyrroline-5-carboxylate dehydrogenase, PutA. The proline catabolic enzymes of the aldehyde dehydrogenase (ALDH) protein superfamily, proline dehydrogenase and Delta(1)-pyrroline-5-carboxylate dehydrogenase (P5CDH, (EC=1.5.1.12 )), 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.
No pairwise interactions are available for this conserved domain.

Total Mutations Found: 109
Total Disease Mutations Found: 63
This domain occurred 17 times on human genes (31 proteins).



  EPILEPSY, PYRIDOXINE-DEPENDENT
  HYPERPROLINEMIA, TYPE II
  METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY
  METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY (MMSDHD)
  MICROPHTHALMIA, ISOLATED 8
  MICROPHTHALMIA, ISOLATED, 8 (MCOP8)
  SJOEGREN-LARSSON SYNDROME (SLS)
  SJOGREN-LARSSON SYNDROME
  SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY
  SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY (SSADHD)


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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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