Hotspots for Disease-Causing Mutations in the Mitochondrial TIM23 Import Complex.

ABSTRACT: The human mitochondrial proteome comprises approximately 1500 proteins, with only 13 being encoded by mitochondrial DNA. The remainder are encoded by the nuclear genome, translated by cytosolic ribosomes, and subsequently imported into and sorted within mitochondria. The process of mitochondria-destined protein import is mediated by several intricate protein complexes distributed among the four mitochondrial compartments. The focus of this mini-review is the translocase of the inner membrane 23 (TIM23) complex that assists in the import of ~60% of the mitochondrial proteome, which includes the majority of matrix proteins as well as some inner membrane and intermembrane space proteins. To date, numerous pathogenic mutations have been reported in the genes encoding various components of the

SUBMITTER: Jain S 

PROVIDER: S-EPMC11675802 | biostudies-literature | 2024 Nov

REPOSITORIES: biostudies-literature