Tetratricopeptide Repeat Domain 33 (TTC33) is a protein encoded by the TTC33 gene in humans. This protein is characterized by the presence of tetratricopeptide repeats (TPR), which are structural motifs involved in protein-protein interactions. TTC33 is also known as Osmosis Responsive Factor (OSRF) and is implicated in various cellular processes.
TTC33 comprises three TPR repeats, which are typically 34 amino acids long and form a helix-turn-helix structure . The human recombinant version of TTC33 is produced in Escherichia coli and consists of a single polypeptide chain containing 285 amino acids (1-262) with a molecular mass of approximately 31.8 kDa . Additionally, it is fused to a 23 amino acid His-tag at the N-terminus to facilitate purification through chromatographic techniques .
TTC33 is a protein-coding gene associated with mitochondrial complex IV deficiency, nuclear type 23 . The protein is ubiquitously expressed in the nucleoplasm and is also localized to the Golgi apparatus and vesicles . This widespread expression suggests that TTC33 plays a crucial role in various cellular functions, including protein folding, assembly, and transport.
The expression of TTC33 is observed across multiple tissues, including the brain, liver, kidney, and various glands . It interacts with several other proteins, indicating its involvement in complex cellular pathways. The protein’s interaction network includes nine known interacting proteins, which further underscores its significance in cellular processes .
Mutations or dysregulation of the TTC33 gene can lead to mitochondrial complex IV deficiency, a condition that affects the mitochondrial respiratory chain and can result in severe metabolic disorders . Understanding the function and regulation of TTC33 is essential for developing potential therapeutic strategies for related diseases.