EphA1

EphA1, also known as ephrin type-A receptor 1, is a protein that belongs to the Eph receptor family. Eph receptors are involved in cell migration, axon guidance, and the development of the nervous system. EphA1 is a member of the EphA subfamily, which includes EphA2, EphA3, EphA4, EphA5, EphA6, EphA7, EphA8, EphA9, EphA10, and EphA11.

The EphA1 protein is encoded by the EPHA1 gene, which is located on the long arm of chromosome 11 (11q13.3). The EPHA1 gene consists of 11 exons and spans over 100 kilobases. The protein is a type I membrane protein with an extracellular domain, a single transmembrane domain, and a short cytoplasmic domain.

EphA1 interacts with its ligands, the Ephrin-B subfamily, which includes Ephrin-B1, Ephrin-B2, Ephrin-B3, and Ephrin-B4. The binding of EphA1 to Ephrin-B ligands promotes the formation of homophilic dimers, which are thought to be involved in the regulation of cell migration and axon guidance. EphA1 has been shown to play a role in various biological processes, including neural crest cell migration, axon pathfinding, and the development of the central nervous system.

Mutations in the EPHA1 gene have been associated with several neurological disorders, including Charcot-Marie-Tooth disease type 1A (CMT1A) and hereditary sensory and autonomic neuropathy type 1 (HSA1). These disorders are characterized by peripheral neuropathy, which is a damage to the peripheral nerves that can cause weakness, numbness, and pain.

In summary, EphA1 is a crucial protein in the Eph receptor family, involved in cell migration, axon guidance, and the development of the nervous system. Its role in these processes is mediated through its interaction with Ephrin-B ligands, and mutations in the EPHA1 gene have been linked to various neurological disorders.