Genomics. 1999 Nov 1;61(3):259-67.

The human family of Deafness/Dystonia peptide (DDP) related mitochondrial import proteins.

Jin H, Kendall E, Freeman TC, Roberts RG, Vetrie DL.

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GKT Medical School, Guy's Hospital, London, SE1 9RT, United Kingdom.

Abstract

The gene responsible for the human genetic neurodegenerative disorder DFN-1/MTS encodes a small protein known as deafness/dystonia peptide (DDP). It bears a strong resemblance to a recently characterized set of zinc-binding yeast proteins (Tim8p, Tim9p, Tim10p, Tim12p, and Tim13p) that are implicated in the import of a class of transmembrane carrier proteins from the cytoplasm to the mitochondrial inner membrane. We describe here the human complement of DDP/Tim-like proteins and establish the likely orthologous relationships between sequences from human, yeast, and other organisms. We also describe the expression patterns and chromosomal locations of their genes, which are candidate loci for autosomal recessive neurodegenerative disorders.

PMID:: 10552927; [PubMed - indexed for MEDLINE]

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Human deafness dystonia syndrome is a mitochondrial disease. [Proc Natl Acad Sci U S A. 1999]
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Koehler CM, Leuenberger D, Merchant S, Renold A, Junne T, Schatz G. Proc Natl Acad Sci U S A. 1999 Mar 2; 96(5):2141-6.
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