TIMMDC1

TIMMDC1
Identifiers
Aliases	TIMMDC1, C3orf1, translocase of inner mitochondrial membrane domain containing 1, MC1DN31
External IDs	OMIM: 615534; MGI: 1922139; HomoloGene: 9578; GeneCards: TIMMDC1; OMA:TIMMDC1 - orthologs
Gene location (Human)
Chr.	Chromosome 3 (human)
End	119,525,090 bp
Gene location (Mouse)
Chr.	Chromosome 16 (mouse)
End	38,343,025 bp
RNA expression pattern
	Top expressed in
	myocardium of left ventricle; ; cardiac muscle tissue of right atrium; ; deltoid muscle; ; tibialis anterior muscle; ; quadriceps femoris muscle; ; vastus lateralis muscle; ; right ventricle; ; skin of arm; ; apex of heart; ; biceps brachii;
	Top expressed in
	gastrula; ; muscle of thigh; ; Gonadal ridge; ; skeletal muscle tissue; ; medullary collecting duct; ; cumulus cell; ; soleus muscle; ; myocardium of ventricle; ; intercostal muscle; ; renal corpuscle;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	protein binding;
Cellular component	integral component of membrane; mitochondrial inner membrane; membrane; mitochondrion; mitochondrial membranes; nucleoplasm; nucleus;
Biological process	mitochondrial respiratory chain complex I assembly;
	Sources:Amigo / QuickGO
Orthologs
	51300
	76916
	ENSG00000113845
	ENSMUSG00000002846
	Q9NPL8
	Q8BUY5
	NM_016589
	NM_024273
	NP_057673
	NP_077235
	Wikidata
View/Edit Human	View/Edit Mouse

TIMMDC1 is a protein that in humans is encoded by the TIMMDC1 gene. It is a chaperone protein involved in constructing the membrane arm of mitochondrial Complex I. A frameshift mutation in an intron of this gene has been shown to cause failure to thrive, retardation of psychomotor development, infantile-onset hypotonia, and severe neurologic dysfunction. High expression of this gene has been associated with migration of lung cancer cells while depletion of the protein has been shown to affect regulation of apoptosis, the cell cycle, and cell migration.