The mitochondrial TIM22 preprotein translocase is highly conserved throughout the eukaryotic kingdom.

Abstract:

:The Mohr-Tranebjaerg syndrome (MTS), a neurodegenerative syndrome characterized by progressive sensorineural hearing loss, dystonia, mental retardation and blindness, is a mitochondrial disease caused by mutations in the deafness/dystonia peptide 1 (DDP1) gene. DDP1 shows similarity to the yeast proteins Tim9, Tim10 and Tim12, components of the mitochondrial import machinery for carrier proteins. Here, we show that DDP1 belongs to a large family of evolutionarily conserved proteins. We report the identification, chromosomal localization and expressional analysis of six human family members which represent further candidate genes for neurodegenerative diseases.

journal_name

FEBS Lett

journal_title

FEBS letters

authors

Bauer MF,Rothbauer U,Mühlenbein N,Smith RJ,Gerbitz K,Neupert W,Brunner M,Hofmann S

doi

10.1016/s0014-5793(99)01665-8

keywords:

subject

Has Abstract

pub_date

1999-12-24 00:00:00

pages

41-7

issue

1-2

eissn

0014-5793

issn

1873-3468

pii

S0014579399016658

journal_volume

464

pub_type

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