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TIMM50 (Mitochondrial import inner membrane translocase subunit TIM50) is an enzyme 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.
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蛋白别名: homolog of yeast Tim50; MGC102733; Mitochondrial import inner membrane translocase subunit TIM50; Tim50-like protein; translocase of inner mitochondrial membrane 50 homolog
基因别名: PRO1512; TIM50; TIM50L; TIMM50
UniProt ID: (Human) Q3ZCQ8
Entrez Gene ID: (Human) 92609