TIMM8A

TIMM8A
Identifiers
Aliases	TIMM8A, DDP, DDP1, DFN1, MTS, TIM8, translocase of inner mitochondrial membrane 8 homolog A (yeast), translocase of inner mitochondrial membrane 8A
External IDs	OMIM: 300356; MGI: 1353433; HomoloGene: 37878; GeneCards: TIMM8A; OMA:TIMM8A - orthologs
Gene location (Human)
Chr.	X chromosome (human)
End	101,348,742 bp
Gene location (Mouse)
Chr.	X chromosome (mouse)
End	133,442,614 bp
RNA expression pattern
	Top expressed in
	endothelial cell; ; gonad; ; mucosa of transverse colon; ; right lobe of liver; ; islet of Langerhans; ; left ventricle; ; rectum; ; muscle of leg; ; muscle of thigh; ; gastrocnemius muscle;
	Top expressed in
	embryo; ; morula; ; embryo; ; tail of embryo; ; right kidney; ; yolk sac; ; blastocyst; ; ventricular zone; ; genital tubercle; ; proximal tubule;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	protein binding; metal ion binding;
Cellular component	mitochondrial inner membrane; mitochondrial intermembrane space; mitochondrion; membrane;
Biological process	protein transport; nervous system development; transport;
	Sources:Amigo / QuickGO
Orthologs
	1678
	30058
	ENSG00000126953
	ENSMUSG00000048007
	O60220
	Q9WVA2
	NM_032696; NM_001145951; NM_004085
	NM_013898
	NP_001139423; NP_004076
	NP_038926
	Wikidata
View/Edit Human	View/Edit Mouse

Mitochondrial import inner membrane translocase subunit Tim8 A, also known as deafness-dystonia peptide or protein is an enzyme that in humans is encoded by the TIMM8A gene. This translocase has similarity to yeast mitochondrial proteins that are involved in the import of metabolite transporters from the cytoplasm into the mitochondrial inner membrane. The gene is mutated in deafness-dystonia syndrome (or Mohr-Tranebjaerg syndrome; MTS/DFN-1) and it is postulated that MTS/DFN-1 is a mitochondrial disease caused by a defective mitochondrial protein import system.