TIMM50

TIMM50
Identifiers
Aliases	TIMM50, TIM50, TIM50L, translocase of inner mitochondrial membrane 50, MGCA9
External IDs	OMIM: 607381; MGI: 1913775; HomoloGene: 57031; GeneCards: TIMM50; OMA:TIMM50 - orthologs
Gene location (Human)
Chr.	Chromosome 19 (human)
End	39,493,785 bp
Gene location (Mouse)
Chr.	Chromosome 7 (mouse)
End	28,011,497 bp
RNA expression pattern
	Top expressed in
	left testis; ; right testis; ; apex of heart; ; muscle of thigh; ; right auricle of heart; ; gastrocnemius muscle; ; right lobe of thyroid gland; ; left ventricle; ; left lobe of thyroid gland; ; mucosa of transverse colon;
	Top expressed in
	right kidney; ; epiblast; ; tail of embryo; ; embryo; ; neural tube; ; embryo; ; ventricular zone; ; yolk sac; ; interventricular septum; ; proximal tubule;
	More reference expression data
	; ;
	More reference expression data
Gene ontology
Molecular function	phosphoprotein phosphatase activity; protein serine/threonine phosphatase activity; interleukin-2 receptor binding; protein binding; RNA binding; protein tyrosine phosphatase activity; ribonucleoprotein complex binding;
Cellular component	integral component of membrane; nuclear speck; membrane; TIM23 mitochondrial import inner membrane translocase complex; nucleoplasm; mitochondrion; mitochondrial inner membrane; nucleus;
Biological process	protein dephosphorylation; protein import into mitochondrial matrix; protein transport; mitochondrial membrane organization; release of cytochrome c from mitochondria; peptidyl-tyrosine dephosphorylation;
	Sources:Amigo / QuickGO
Orthologs
	92609
	66525
	ENSG00000105197
	ENSMUSG00000003438
	Q3ZCQ8
	Q9D880
	NM_001001563; NM_001329559
	NM_025616
	NP_001001563; NP_001316488; NP_001001563.1
	NP_079892
	Wikidata
View/Edit Human	View/Edit Mouse

Mitochondrial import inner membrane translocase subunit TIM50 is a protein that in humans is encoded by the TIMM50 gene. Tim50 is a subunit of the Tim23 translocase complex in the inner mitochondrial membrane. Mutations in TIMM50 can lead to epilepsy, severe intellectual disability, and 3-methylglutaconic aciduria. TIMM50 expression is increased in breast cancer cells and decreased in hypertrophic hearts.