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  Domain Name: ALDH_F2BC
Arabidosis aldehyde dehydrogenase family 2 B4, B7, C4-like. Included in this CD is the Arabidosis aldehyde dehydrogenase family 2 members B4 and B7 (EC=1.2.1.3), which are mitochondrial homotetramers that oxidize acetaldehyde and glycolaldehyde, but not L-lactaldehyde. Also in this group, is the Arabidosis cytosolic, homotetramer ALDH2C4 (EC=1.2.1.3), an enzyme involved in the oxidation of sinapalehyde and coniferaldehyde.
No pairwise interactions are available for this conserved domain.

Total Mutations Found: 85
Total Disease Mutations Found: 50
This domain occurred 18 times on human genes (32 proteins).



  EPILEPSY, PYRIDOXINE-DEPENDENT
  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(P) 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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