TIMM8A gene homepage

This database is one of the "Eye disease" gene variant databases.
General information
Gene symbol TIMM8A
Gene name translocase of inner mitochondrial membrane 8 homolog A (yeast)
Chromosome X
Chromosomal band q22
Imprinted Unknown
Genomic reference NG_011734.1
Transcript reference NM_004085.3
Exon/intron information NM_004085.3 exon/intron table
Associated with diseases atrophy, nerve, opticoacoustic, with dementia (Jensen syndrome), Mohr-Tranebjaerg syndrome
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 22
Unique public DNA variants reported 21
Individuals with public variants 4
Hidden variants 1
Download all this gene's data Download all data
Notes This database is one of the "Eye disease" gene variant databases.
Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
Date created July 18, 2012
Date last updated May 15, 2019
Version TIMM8A:190515

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_004085.3.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL https://www.LOVD.nl/TIMM8A
HGNC 11817
Entrez Gene 1678
PubMed articles TIMM8A
OMIM - Gene 300356
OMIM - Diseases atrophy, nerve, opticoacoustic, with dementia (Jensen syndrome)
Mohr-Tranebjaerg syndrome
GeneCards TIMM8A
GeneTests TIMM8A

Active transcripts




NCBI ID     

NCBI Protein ID     

00021136 X transcript variant 1 NM_004085.3 NP_004076.1 22

Copyright & disclaimer
The contents of this LOVD database are the intellectual property of the respective curator(s). Any unauthorised use, copying, storage or distribution of this material without written permission from the curator(s) will lead to copyright infringement with possible ensuing litigation. Copyright © 2012-2019. All Rights Reserved. For further details, refer to Directive 96/9/EC of the European Parliament and the Council of March 11 (1996) on the legal protection of databases.

We have used all reasonable efforts to ensure that the information displayed on these pages and contained in the databases is of high quality. We make no warranty, express or implied, as to its accuracy or that the information is fit for a particular purpose, and will not be held responsible for any consequences arising out of any inaccuracies or omissions. Individuals, organisations and companies which use this database do so on the understanding that no liability whatsoever either direct or indirect shall rest upon the curator(s) or any of their employees or agents for the effects of any product, process or method that may be produced or adopted by any part, notwithstanding that the formulation of such product, process or method may be based upon information here provided.