CPB1

CPB1 refers to the gene encoding Carboxypeptidase B1, also known as Carboxypeptidase N, polypeptide 1. This gene is a member of the metallocarboxypeptidase family of enzymes. These enzymes are responsible for removing C-terminal amino acids from peptides and proteins.

Carboxypeptidase B1 plays a critical role in the blood. It is a component of carboxypeptidase N, a plasma enzyme that inactivates anaphylatoxins such as C3a and C5a, which are involved in inflammation and immune responses. By cleaving arginine or lysine residues from the C-terminus of these peptides, CPB1 helps to regulate the inflammatory cascade and prevent excessive immune system activation.

Mutations in the CPB1 gene have been linked to certain health conditions. Hereditary angioedema, a disorder characterized by recurrent episodes of swelling, has been associated with variations in the CPB1 gene. These genetic changes can lead to a deficiency or altered function of the CPB1 enzyme, thereby disrupting its role in regulating the kinin-kallikrein system and potentially contributing to angioedema. Further research continues to explore the precise mechanisms and clinical implications of CPB1 gene variations.