TOC159

Toc159 is a protein-coding gene located on chromosome 17 in humans. It is a member of the TOC (translocase of outer membrane) family, which plays a crucial role in the transport of proteins across the outer membrane of mitochondria. The TOC complex is composed of two subcomplexes: TOC1 and TOC3. Toc159 is a component of the TOC1 subcomplex, which is responsible for the initial docking of the precursor protein to the outer membrane.

The Toc159 protein is a 159-amino acid long polypeptide that contains a signal sequence at its N-terminus, which targets it to the mitochondria. Once in the mitochondria, the signal sequence is cleaved, and the mature protein is incorporated into the TOC1 subcomplex. The TOC1 subcomplex then interacts with the TOC3 subcomplex, forming the complete TOC complex.

Mutations in the TOC159 gene have been associated with a rare autosomal recessive disorder called mitochondrial protein transport disorder type 1 (MPTD1). This disorder is characterized by muscle weakness, exercise intolerance, and mitochondrial dysfunction. The exact mechanism by which mutations in TOC159 lead to MPTD1 is not fully understood, but it is believed to be due to impaired protein transport across the outer mitochondrial membrane.

In summary, Toc159 is a protein-coding gene that plays a critical role in the transport of proteins across the outer membrane of mitochondria. Mutations in this gene can lead to a rare mitochondrial disorder characterized by muscle weakness and exercise intolerance. Further research is needed to fully understand the molecular mechanisms underlying this disorder and to develop potential therapeutic interventions.