KIAA1045
Kiaa1045: An Essential Player in Blood Clotting and Beyond
Description
Kiaa1045 is a protein encoded by the KIAA1045 gene. It is a crucial component of the blood coagulation cascade, where it serves as a cofactor for factor XIa, the enzyme responsible for activating factor IX in the intrinsic clotting pathway. Kiaa1045 enhances the enzymatic activity of factor XIa, promoting the formation of blood clots to prevent excessive bleeding.
Apart from its role in hemostasis, Kiaa1045 is also involved in other physiological processes, such as cell adhesion, migration, and signal transduction. It has been implicated in various biological pathways, including inflammation, angiogenesis, and tumorigenesis.
Associated Diseases
Mutations in the KIAA1045 gene have been linked to several bleeding disorders, predominantly thrombophilia and hemophilia.
Thrombophilia: Kiaa1045 deficiency impairs the blood clotting process, increasing the risk of excessive bleeding. This condition is characterized by frequent nosebleeds, menorrhagia (heavy menstrual bleeding), and easy bruising.
Hemophilia B: Some mutations in the KIAA1045 gene have been associated with hemophilia B, a rare bleeding disorder caused by factor IX deficiency. Kiaa1045 deficiency leads to impaired activation of factor IX, resulting in reduced blood clotting ability.
Did you Know ?
Approximately 1 in 500,000 people worldwide is affected by Kiaa1045 deficiency. This highlights the rarity of the condition, but its significance in maintaining proper blood coagulation.
