Structure and organization of the human galactocerebrosidase (GALC) gene.

@article{Luzi1995StructureAO,
  title={Structure and organization of the human galactocerebrosidase (GALC) gene.},
  author={Paola Luzi and Mohammad A. Rafi and David A. Wenger},
  journal={Genomics},
  year={1995},
  volume={26 2},
  pages={
          407-9
        }
}
The deficiency of galactocerebrosidase (GALC; EC 3.2.1.46) is responsible for globoid cell leukodystrophy (GLD, Krabbe disease) in humans and certain animals. This enzyme catalyzes the lysosomal hydrolysis of specific galactolipids including galactosylceramide (galactocerebroside) and galactosylsphingosine (psychosine), among others. Recently we cloned the full-length human GALC cDNA using amino acid sequence information obtained from GALC purified from human urine and brain. In this… CONTINUE READING

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