TIMM8A gene homepage

MSeqDR-LSDB: Mitochondrial Disease LSDB
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 NC_000023.10
Transcript reference NM_001145951.1, NM_004085.3, XM_005262092.1
Associated with diseases MTS
Citation reference(s) -
Curators (0) -
Total number of public variants reported 16
Unique public DNA variants reported 13
Individuals with public variants 0
Hidden variants 0
Download all this gene's data Download all data
Date created November 07, 2013

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
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
HGNC 11817
Entrez Gene 1678
PubMed articles TIMM8A
OMIM - Gene 300356
OMIM - Diseases MTS (Mohr-Tranebjaerg syndrome, 304700 (3))
GeneCards TIMM8A
GeneTests TIMM8A

Active transcripts




NCBI ID     

NCBI Protein ID     

00000326 X transcript variant X1 XM_005262092.1 XP_005262149.1 16
00000327 X transcript variant 1 NM_004085.3 NP_004076.1 16
00000328 X transcript variant 2 NM_001145951.1 NP_001139423.1 16

Copyright & disclaimer
Sources: GeneDX http://www.genedx.com ; NuclearMitome http://www.transgenomic.com ; MitoPhenome http://mitophenome.org ; MitoCarta http://www.broadinstitute.org/pubs/MitoCarta/

Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium