Aspartate glutamate carrier (citrin) deficiency

  • Keiko Kobayashi
  • Takeyori Saheki


The mitochondrial inner membrane harbors a set of carrier proteins for metabolite transport that constitute a superfamily of related proteins (Krämer and Palmieri 1992; Walker 1992; Palmieri 1994; Palmieri and van Ommen 1999). Many metabolite transporters or carriers with the feature s of the mitochondrial carrier family are now classified as solute carrier family 25 (SLC25). The members of SLC25 are each composed of approximately 300 amino acid s comprising three homologous domains repeated in tandem, each about 100 amino acids long, that contain a conserved sequence motif, each with two hydrophobic α-helical segments connected by an extensive hydrophilic sequence and two putative mitochondrial transmembrane (TM) spanners (Krämer and Palmieri 1992; Walker 1992; Palmieri 1994). A topological model predicts six TM spanners with amino and carboxyl termini on the cytosolic side and hydrophilic loops on the matrix side.


Intrahepatic Cholestasis Neonatal Hepatitis Aspartate Glutamate Pancreatic Secretory Trypsin Inhibitor Argininosuccinate Synthetase 
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Copyright information

© Springer Science+Business Media New York 2003

Authors and Affiliations

  • Keiko Kobayashi
    • 1
  • Takeyori Saheki
    • 1
  1. 1.Department of Molecular Metabolism and Biochemical GeneticsKagoshima University Graduate School of Medical and Dental SciencesKagoshimaJapan

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