Mullerian Inhibiting Substance Type II Receptor (MISR2)

AMHR2 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 human AMH receptor protein consists of 573 amino acids: 17, 127, 26, and 403 of the 573 amino acids form the signal sequence, the extracellular, transmembrane, and intracellular regions, respectively.