AMHR2
抗穆勒激素受体2型
anti-Mullerian hormone receptor type 2
该基因编码抗穆勒氏激素(AMH)的受体,该激素除睾丸激素外还导致男性性别分化。AMH和睾丸激素由不同的细胞在睾丸中产生,并具有不同的作用。睾丸激素可促进男性生殖器的发育,而AMH与编码受体的结合可阻止苗勒氏管向子宫和输卵管的发育。该基因的突变与持续性II型穆勒氏管综合征相关。已经鉴定出编码不同同工型的可替代剪接的转录变体。[由RefSeq提供,2009年9月]
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. [provided by RefSeq, Sep 2009]