ADAM6
Adam6: A Multifaceted Protein with Diverse Roles and Implications in Disease
Description
Adam6 (a disintegrin and metallopeptidase domain-containing protein 6) is a member of the ADAM (a disintegrin and metallopeptidase) family of proteins. These proteins are characterized by the presence of a disintegrin domain, which interacts with integrins, and a metallopeptidase domain, which cleaves specific peptide bonds. Adam6 is expressed in a variety of tissues, including the nervous system, cardiovascular system, and immune system.
Associated Diseases
Adam6 has been implicated in the pathogenesis of several human diseases. Mutations in the Adam6 gene have been linked to:
- Epilepsy: Adam6 is expressed in neurons and has been shown to play a role in synaptic plasticity, a process essential for learning and memory. Mutations in Adam6 can lead to abnormal synaptic function and epilepsy.
- Cardiovascular disease: Adam6 is expressed in endothelial cells and has been shown to play a role in the regulation of blood pressure and vascular tone. Mutations in Adam6 can lead to hypertension and other cardiovascular problems.
- Immune disorders: Adam6 is expressed on immune cells and has been shown to play a role in the regulation of the immune response. Mutations in Adam6 can lead to immune dysfunction and autoimmune disorders.
Did you Know ?
Mutations in the Adam6 gene are estimated to occur in approximately 1 in 100,000 individuals. This makes Adam6 mutations a relatively rare cause of disease, but they can have a significant impact on the individuals affected.
