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  • Title: A model for Batten disease protein CLN3: functional implications from homology and mutations.
    Author: Janes RW, Munroe PB, Mitchison HM, Gardiner RM, Mole SE, Wallace BA.
    Journal: FEBS Lett; 1996 Dec 09; 399(1-2):75-7. PubMed ID: 8980123.
    Abstract:
    In an attempt to understand the molecular nature of Batten disease, we have examined the amino acid sequence of the affected CLN3 gene product (The International Batten Disease Consortium (1995) Cell 82, 949-957) and the site-specific mutations which give rise to the biological defect. Homology searches and molecular modeling have led to the development of a model for the folding and disposition of the protein, possibly within a mitochondrial membrane. High homology with a yeast protein of unknown function suggests a strong evolutionary conservation of function. We speculate that a possible role for the protein may be in chaperoning the folding/unfolding or assembly/ disassembly of other proteins, specifically subunit c of the mitochondrial ATP synthase complex.
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