CBWD6
cbwd6: A Novel Biomarker for Neurological Disorders and Beyond
Introduction
cbwd6, also known as cell-binding molecule with wiskott-Aldrich syndrome protein domain 6, is a protein that plays a crucial role in various cellular processes. It has been extensively studied for its involvement in neurological disorders, but recent research suggests its potential relevance in a broader range of diseases.
Mechanism of Action
cbwd6 is a scaffolding protein that interacts with multiple signaling molecules and cytoskeletal proteins. It regulates cell adhesion, migration, and polarization, essential for proper neuronal development and function. Dysregulation of cbwd6 can disrupt these processes, leading to neurological impairments.
Associated Diseases
Mutations in the cbwd6 gene have been linked to several neurological disorders, including:
- Wiskott-Aldrich Syndrome (WAS): An inherited immune deficiency disorder characterized by recurrent infections, low platelets, and eczema.
- X-linked Thrombocytopenia (XLT): A bleeding disorder caused by reduced platelet production.
- Microcephaly with Congenital Contractures and Severely Impaired Intellectual Disability (MICCS): A rare developmental disorder characterized by a small head circumference, joint contractures, and intellectual disability.
- Zellweger Spectrum Disorder (ZSD): A rare genetic condition affecting the peroxisomes, organelles that play a role in fat metabolism.
Did you Know ?
In individuals with WAS, mutations in the cbwd6 gene account for approximately 10-15% of cases.
