ACOT4
acot4
Description
Acot4, also known as angiopoietin-like protein 4, is a protein that plays a crucial role in vascular development and remodeling. It belongs to the angiopoietin-like protein family, which is involved in regulating the formation, maturation, and stability of blood vessels. Acot4 is primarily expressed in endothelial cells, the cells that line the inner surface of blood vessels.
Associated Diseases
Dysregulation of acot4 expression or function has been implicated in several diseases, particularly those related to vascular dysfunction. Here are the most common associated diseases:
-
Arteriovenous Malformations (AVMs): Acot4 is essential for the proper formation and function of the vascular system. Mutations or deficiencies in the acot4 gene can lead to the development of AVMs, abnormal connections between arteries and veins.
-
Retinal Angiogenesis Disorders: Acot4 is involved in the regulation of blood vessel growth in the retina. Dysregulation of acot4 can contribute to retinal angiogenesis disorders, such as diabetic retinopathy and macular degeneration.
-
Cardiovascular Diseases: Acot4 plays a role in maintaining the health and stability of the heart and blood vessels. Abnormal levels or functions of acot4 can increase the risk of cardiovascular events, including stroke and heart attack.
-
Cancer: Acot4 has been found to be involved in tumor angiogenesis, the formation of new blood vessels that support tumor growth. High levels of acot4 in tumors can indicate a more aggressive phenotype and poorer prognosis.
Did you Know ?
Studies have shown that approximately 1 in 10,000 people worldwide are affected by AVMs, a developmental disorder in which abnormal connections form between arteries and veins. Acot4 mutations have been identified as a significant cause of these malformations.
