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Article

The C66W mutation in the deafness dystonia peptide 1 (DDP1) affects the formation of functional DDP1.TIM13 complexes in the mitochondrial intermembrane space.

The Journal of biological chemistry - 28 Jun 2002

Hofmann Sabine, Rothbauer Uli, Mühlenbein Nicole, Neupert Walter, Gerbitz Klaus-Dieter, Brunner Michael, Bauer Matthias F

Abstract excerpt

Mohr-Tranebjaerg syndrome is a progressive, neurodegenerative disorder caused by loss-of-function mutations in the DDP1/TIMM8A gene. DDP1 belongs to a family of evolutionary conserved proteins that are organized in hetero-oligomeric complexes in the mitochondrial intermembrane space. They mediate the import and insertion of hydrophobic membrane proteins into the mitochondrial inner membrane. All of them share a...

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PMID: 11956200
DOI: 10.1074/jbc.M201154200

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The C66W mutation in the deafness dystonia peptide 1 (DDP1) affects the formation of functional DDP1.TIM13 complexes in the mitochondrial intermembrane space.PMID 11956200Read ↗

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