CDC123 Human

The CDC123 gene is located on chromosome 10 and encodes a protein that is 336 amino acids long . The protein is known to function as an ATP-dependent protein-folding chaperone for the eIF2 complex. It binds to the gamma subunit of the eIF2 complex, facilitating its assembly with the alpha and beta subunits .

CDC123 is predicted to be involved in the positive regulation of translational initiation, a critical step in protein synthesis. The protein is primarily located in the cytoplasm and is associated with various cellular processes, including cell proliferation and immune response .

CDC123 is expressed in multiple tissues, including lymphoid tissue, bone marrow, testis, and skeletal muscle. It is involved in several biological processes such as protein ubiquitination, lymph vessel development, and spermatid development . The protein’s expression profile indicates its significant role in both normal cellular functions and specialized processes like immune response and spermatogenesis.

Mutations or dysregulation of the CDC123 gene have been associated with certain diseases. For instance, it is linked to conditions such as Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 2, and Pettigrew Syndrome . These associations highlight the importance of CDC123 in maintaining normal cellular functions and its potential impact on human health.

Recombinant CDC123 protein is produced using various expression systems, such as Escherichia coli, to study its function and role in cellular processes. The recombinant protein is typically purified to high levels of purity (>90%) and is used in various biochemical assays, including SDS-PAGE and mass spectrometry .