This gene encodes the receptor for the anti-Mullerian hormone (AMH) which, in addition to testosterone, results in male sex differentiation. AMH and testosterone are produced in the testes by different cells and have different effects. Testosterone promotes the development of male genitalia while the binding of AMH to the encoded receptor prevents the development of the mullerian ducts into uterus and Fallopian tubes. Mutations in this gene are associated with persistent Mullerian duct syndrome type II. Alternatively spliced transcript variants encoding different isoforms have been identified.
The amphoterin-induced gene and ORF (AMIGO) family of proteins consists of AMIGO-1, AMIGO-2 and AMIGO-3. All three members are single pass type I membrane proteins that contain several leucine-rich repeats, one IgG domain, and a transmembrane domain. The AMIGO proteins are specifically expressed on fiber tracts of neuronal tissues and participate in their formation. The AMIGO proteins can form complexes with each other, but can also bind itself. AMIGO-1, also designated Alivin-2, promotes growth and fasciculation of neurites and plays a role in myelination and fasciculation of developing neural axons. In cerebellar neurons, AMIGO-2 (Alivin-1) is crucial for depolarization-dependent survival. Similar to AMIGO-1 and AMIGO-2, AMIGO-3 (Alivin-3) plays a role in homophilic and/or heterophilic cell-cell interaction and signal transduction
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