TIMM50
Description
The TIMM50 (translocase of inner mitochondrial membrane 50) is a protein-coding gene located on chromosome 19.
TIMM50, a human gene, encodes for the mitochondrial import inner membrane translocase subunit TIM50, a protein essential for the function of the Tim23 translocase complex. This complex resides within the inner mitochondrial membrane and plays a vital role in transporting proteins carrying transit peptides across the membrane. Mutations in the TIMM50 gene can lead to serious health problems such as epilepsy, severe intellectual disability, and 3-methylglutaconic aciduria. Interestingly, TIMM50 expression is elevated in breast cancer cells but reduced in hypertrophic hearts. The TIMM50 gene is located on chromosome 19, spanning 13,373 base pairs and producing a 39.6 kDa protein with 353 amino acids. Within the TIM23 complex, TIMM50 acts as a receptor, recognizing the mitochondrial targeting signal (presequence) on protein cargo destined for the inner mitochondrial membrane and matrix. Disrupting this gene's function in human cells results in the release of cytochrome c and apoptosis, highlighting its crucial role in maintaining membrane permeability and cell survival.
TIMM50 is a crucial component of the TIM23 complex, which facilitates the movement of proteins with transit peptides across the inner mitochondrial membrane. While it exhibits phosphatase activity in laboratory settings, this activity might not be relevant in living organisms.
TIMM50 is also known as MGCA9, TIM50, TIM50L.
