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  Domain Name: Mito_carr
Mitochondrial carrier protein.
No pairwise interactions found for the domain Mito_carr

Total Mutations Found: 68
Total Disease Mutations Found: 39
This domain occurred 49 times on human genes (81 proteins).



  ANEMIA, SIDEROBLASTIC, PYRIDOXINE-REFRACTORY, AUTOSOMAL RECESSIVE
  AUTOSOMAL DOMINANT, 2
  CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY
  CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY (CACT DEFICIENCY)
  CITRULLINEMIA, TYPE II, ADULT-ONSET
  COMBINED D-2- AND L-2-HYDROXYGLUTARIC ACIDURIA
  EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 3
  EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 3 (EIEE3)
  HHH SYNDROME
  HYPERORNITHINEMIA-HYPERAMMONEMIA-HOMOCITRULLINURIA SYNDROME (HHH SYNDROME)
  HYPOMYELINATION, GLOBAL CEREBRAL
  MITOCHONDRIAL DNA DEPLETION SYNDROME 12 (CARDIOMYOPATHIC TYPE)
  MITOCHONDRIAL PHOSPHATE CARRIER DEFICIENCY
  OBESITY, SEVERE, AND TYPE II DIABETES
  PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,
  PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT, 2 (PEOA2)


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Range on the Protein:  

   Protein ID            Protein Position

Domain Position:  


No Conserved Features/Sites Found for Mito_carr








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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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