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  Domain Name: ABC_membrane
ABC transporter transmembrane region. This family represents a unit of six transmembrane helices. Many members of the ABC transporter family (pfam00005) have two such regions.
No pairwise interactions found for the domain ABC_membrane

Total Mutations Found: 136
Total Disease Mutations Found: 74
This domain occurred 23 times on human genes (49 proteins).



  ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA
  ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 2
  ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 2, INCLUDED
  CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC 2, INCLUDED
  CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 3
  CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 3, INCLUDED
  CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 2
  CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3
  CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 2 (PFIC2)
  COLCHICINE RESISTANCE
  CYSTIC FIBROSIS
  CYSTIC FIBROSIS (CF)
  DUBIN-JOHNSON SYNDROME
  DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3
  GALLBLADDER DISEASE 1
  GALLBLADDER DISEASE 1 (GBD1)
  HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA
  HYPERTRYPSINEMIA, NEONATAL, SUSCEPTIBILITY TO, INCLUDED
  PANCREATITIS, IDIOPATHIC, SUSCEPTIBILITY TO
  PSEUDOXANTHOMA ELASTICUM
  PSEUDOXANTHOMA ELASTICUM, INCLUDED
  VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF, INCLUDED


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Range on the Protein:  

   Protein ID            Protein Position

Domain Position:  


No Conserved Features/Sites Found for ABC_membrane














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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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