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
Notes MSeqDR-LSDB
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))
HGMD TIMM8A
GeneCards TIMM8A
GeneTests TIMM8A


Active transcripts


ID     
Chr     
Name     
NCBI ID     
NCBI Protein ID     
DescendingVariants     
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

  Powered by LOVD v.3.0 Build 21
LOVD software ©2004-2018 Leiden University Medical Center