EFNA5
Description of EFNA5
EFNA5, also known as ephrin-A5, is a member of the ephrin family of proteins. Ephrins are signaling molecules that play a crucial role in various cellular processes, including axon guidance, angiogenesis, and tissue patterning. EFNA5 is a transmembrane protein primarily expressed in the central and peripheral nervous systems, vascular endothelium, and bone marrow. It contains an extracellular domain that binds to its cognate receptors, EphA receptors, initiating downstream signaling pathways.
Associated Diseases
Dysregulation of EFNA5 has been implicated in several diseases, including:
- Parkinson's Disease: Reduced EFNA5 expression has been observed in Parkinson's disease patients, suggesting its role in neuroprotection. Animal studies have shown that overexpression of EFNA5 protects against neurotoxic insults associated with Parkinson's disease.
- Amyotrophic Lateral Sclerosis (ALS): EFNA5 deficiency has been linked to the development of ALS in both human patients and animal models. Mutations in the EFNA5 gene are associated with increased susceptibility to ALS.
- Cancer: EFNA5 dysregulation has been observed in various cancers, including melanoma, breast cancer, and lung cancer. Altered expression or signaling of EFNA5 can promote tumor cell proliferation, migration, and invasion.
- Cardiovascular Disease: EFNA5 plays a role in angiogenesis, the formation of new blood vessels. Dysregulation of EFNA5 signaling can contribute to vascular dysfunction and cardiovascular diseases, such as atherosclerosis and hypertension.
Did you Know ?
According to a study published in the journal "Nature Genetics," a rare genetic variant in the EFNA5 gene has been found to increase the risk of developing Parkinson's disease by approximately 50%. This suggests that EFNA5 plays a significant role in the genetic susceptibility to Parkinson's disease.
