COBL
Description
The COBL (cordon-bleu WH2 repeat protein) is a protein-coding gene located on chromosome 7.
The human COBL gene encodes the Cordon-bleu protein, which is crucial for the development of the nervous system. It plays a critical role in the formation of complex dendritic structures in neurons. The COBL gene was initially discovered in mice, where it was found to be expressed early in embryonic development in the organizer, a region that directs the formation of the body plan. The COBL gene is restricted to vertebrates and encodes a protein with a mass of about 136 kDa in humans. The mouse protein is slightly smaller, with 1337 amino acids, while the human protein has 1261 amino acids. Several splice variants of COBL have been identified in both mice and humans, but their functions are not fully understood.
COBL plays a crucial role in restructuring the actin cytoskeleton. It regulates neuron development, boosting the branching of axons and dendrites. Specifically, COBL controls dendrite branching in Purkinje cells. By binding to and sequestering actin monomers, COBL promotes the formation of actin filaments, thereby influencing the growth of these filaments at their barbed ends. Additionally, COBL can break down actin filaments and promote the formation of cell ruffles.
COBL is also known as -.
Associated Diseases
- colorectal cancer
- bipolar disorder
- type 1 diabetes mellitus
- type 2 diabetes mellitus
- 22q11.2 deletion syndrome
