The KCTD5 gene is located on chromosome 16 and encodes a protein that is involved in various cellular processes. The protein contains a BTB/POZ domain, which is known for its role in protein-protein interactions. This domain is crucial for the tetramerisation of potassium channels, allowing them to form functional tetrameric structures .
KCTD5 is predicted to be involved in the proteasome-mediated ubiquitin-dependent protein catabolic process. This means it helps in the degradation of proteins that are tagged with ubiquitin, a small regulatory protein. The interaction of KCTD5 with CUL3 suggests that it may act as a substrate adapter in some E3 ligase complexes .
Interestingly, KCTD5 does not affect the function of several potassium channels, including Kv2.1/KCNB1, Kv1.2/KCNA2, Kv4.2/KCND2, and Kv3.4/KCNC4 . This indicates that its role might be more specialized or context-dependent.
Mutations or dysregulation of the KCTD5 gene have been associated with certain diseases. For example, it is linked to Brachydactyly, Type D, a condition characterized by shortening of the fingers and toes. It is also associated with Immunodeficiency, Common Variable, 10, which affects the immune system .
The study of KCTD5 is ongoing, with researchers exploring its various roles in cellular processes and its potential implications in disease. The recombinant form of this protein is used in research to better understand its function and to develop potential therapeutic interventions.