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  Domain Name: Uup
ATPase components of ABC transporters with duplicated ATPase domains [General function prediction only]
No pairwise interactions found for the domain Uup

Total Mutations Found: 122
Total Disease Mutations Found: 52
This domain occurred 33 times on human genes (68 proteins).



  ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA
  ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 2
  ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 2, INCLUDED
  CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC 2
  CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 3
  CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 2
  CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3
  CONE-ROD DYSTROPHY 3
  CONE-ROD DYSTROPHY 3, INCLUDED
  DUBIN-JOHNSON SYNDROME
  DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3
  GALLBLADDER DISEASE 1
  GALLBLADDER DISEASE 1, INCLUDED
  HIGH DENSITY LIPOPROTEIN DEFICIENCY
  ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 4A
  LANGEREIS BLOOD GROUP SYSTEM, LAN(-) PHENOTYPE
  MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO
  MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 7
  PSEUDOXANTHOMA ELASTICUM
  PSEUDOXANTHOMA ELASTICUM, INCLUDED
  STARGARDT DISEASE 1
  SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3
  TANGIER DISEASE
  TAP1 DEFICIENCY, SOMATIC


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Range on the Protein:  

   Protein ID            Protein Position

Domain Position:  


No Conserved Features/Sites Found for Uup


























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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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