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Neuropediatrics 1997; 28(1): 12-14
DOI: 10.1055/s-2007-973656
Short communications

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Structure of the CLN3 Gene and Predicted Structure, Location and Function of CLN3 Protein

Hannah M. Mitchison1 , P. E. M. Taschner2 , C. Kremmidiotis3 , D. F. Callen3 , N. A. Doggett4 , T. J. Lemer5 , R. B. Janes6 , B. A. Wallace6 , Patricia B. Munroe1 , Angela M. O'Rawe1 , R. M. Gardiner1 , Sara E. Mole1
  • 1Department of Paediatrics, University College London Medical School, The Rayne Institute, 5 University Street, London WC1E 6JJ, UK,
  • 2Department of Human Genetics, Leiden University, Sylvius Laboratory, Wassenaarseweg 72, 2333 AL Leiden, The Netherlands,
  • 3Department of Cytogenetics and Molecular Genetics, Women and Children's Hospital, North Adelaide, South Australia,
  • 4Life Sciences Division and Center for Human Genome Studies, Los Alamos National Laboratory, Los Alamos, NM, USA,
  • 5Molecular Neurogenetics Unit, Massachusetts General Hospital, Charlestown, MA, USA, and
  • 6Department of Crystallography, Birkbeck College, University of London, London WC1E 7HX
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Publikationsdatum:
13. März 2007 (online)

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Abstract

The genomic sequence of the human CLN3 gene, which is defective in juvenile onset neuronal ceroid lipofuscinosis (Batten disease) is being delineated using a variety of methods. A Saccharomyces cerevisiae gene, YHC3 (for Yeast Homologue to human CLN3), which is highly similar to the human disease gene, has been identified by computer-aided homology searching. Topology predictions indicate the CLN3 protein contains six transmembrane segments. Most similarity between the human and yeast proteins lies either in the transmembrane segments or along one face of the predicted protein structure.

Key words

CLN3 gene - Protein - Juvenile NCL