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  Domain Name: ABC_tran
ABC transporter. ABC transporters for a large family of proteins responsible for translocation of a variety of compounds across biological membranes. ABC transporters are the largest family of proteins in many completely sequenced bacteria. ABC transporters are composed of two copies of this domain and two copies of a transmembrane domain pfam00664. These four domains may belong to a single polypeptide as in human CFTR, or belong in different polypeptide chains.
No pairwise interactions found for the domain ABC_tran

Total Mutations Found: 109
Total Disease Mutations Found: 62
This domain occurred 44 times on human genes (96 proteins).



  ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 2, INCLUDED
  CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 3
  CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 2
  CONE-ROD DYSTROPHY 3, INCLUDED
  CYSTIC FIBROSIS
  DUBIN-JOHNSON SYNDROME
  GALLBLADDER DISEASE 1
  HIGH DENSITY LIPOPROTEIN DEFICIENCY
  ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 4B
  JUNIOR BLOOD GROUP SYSTEM, JR(A-) PHENOTYPE, INCLUDED
  LANGEREIS BLOOD GROUP SYSTEM, LAN(-) PHENOTYPE
  PSEUDOXANTHOMA ELASTICUM
  RETINAL DYSTROPHY, EARLY-ONSET SEVERE
  STARGARDT DISEASE 1
  TANGIER DISEASE
  TAP1 DEFICIENCY, SOMATIC
  URIC ACID CONCENTRATION, SERUM, QUANTITATIVE TRAIT LOCUS 1
  VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF


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Range on the Protein:  

   Protein ID            Protein Position

Domain Position:  


No Conserved Features/Sites Found for ABC_tran












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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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