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AMHR2 / MISRII is 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.
Gene Name: | anti-Mullerian hormone receptor, type II |
Family/Subfamily: | Protein Kinase , Activin/TGFb |
Synonyms: | AMHR2, AMH type II receptor, AMHR, MIS type II receptor, MISR2, MISRII, MRII |
Target Sequences: | NM_020547 NP_065434.1 Q16671 |
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