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Gene: TIMM8A (translocase of inner mitochondrial membrane 8A) Homo sapiens
Symbol: TIMM8A
Name: translocase of inner mitochondrial membrane 8A
Description: This translocase is involved in the import and insertion of hydrophobic membrane proteins from the cytoplasm into the mitochondrial inner membrane. The gene is mutated in Mohr-Tranebjaerg syndrome/Deafness Dystonia Syndrome (MTS/DDS) and it is postulated that MTS/DDS is a mitochondrial disease caused by a defective mitochondrial protein import system. Defects in this gene also cause Jensen syndrome; an X-linked disease with opticoacoustic nerve atrophy and muscle weakness. This protein, along with TIMM13, forms a 70 kDa heterohexamer. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Mar 2009]
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: DDP; DDP1; deafness dystonia protein 1; deafness/dystonia peptide; DFN1; MGC12262; mitochondrial import inner membrane translocase subunit Tim8 A; MTS; TIM8; translocase of inner mitochondrial membrane 8 homolog A; translocase of inner mitochondrial membrane 8 homolog A (yeast); X-linked deafness dystonia protein
Related Pseudogenes: TIMM8AP1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Human AssemblyChrPosition (strand)SourceGenome Browsers
GRCh38X101,345,656 - 101,348,969 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X100,575,548 - 100,603,957 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X100,487,306 - 100,490,343 (-)NCBINCBI36hg18NCBI36
Build 34X100,406,794 - 100,409,832NCBI
CeleraX101,120,103 - 101,123,416 (-)NCBI
Cytogenetic MapXq22.1NCBI
HuRefX90,406,792 - 90,410,105 (-)NCBIHuRef
CHM1_1X100,494,127 - 100,497,440 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)

Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Molecular Pathway Annotations
Phenotype Annotations
References - curated
References - uncurated


Comparative Map Data
Position Markers
miRNA Target Status


Nucleotide Sequences
Protein Sequences
Clinical Variants

Additional Information

External Database Links
Nomenclature History
More on TIMM8A
Alliance Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

CRRD Object Information
CRRD ID: 1350353
Created: 2005-03-08
Species: Homo sapiens
Last Modified: 2019-07-09
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.