Anti-Müllerian hormone receptor

Anti-Müllerian hormone receptor (AMHR) is a protein that in humans is encoded by the AMHR2 gene. It is a type of transmembrane receptor that plays a crucial role in the development and function of the reproductive system.

Function

The Anti-Müllerian hormone receptor is a specific receptor for Anti-Müllerian hormone (AMH), a member of the transforming growth factor-beta (TGF-beta) family. When AMH binds to this receptor, it initiates a series of cellular signaling events that lead to the regression of the Müllerian ducts in male embryos. This process is essential for the normal development of the male reproductive system.

In females, the Anti-Müllerian hormone receptor is involved in the regulation of folliculogenesis, the maturation of the ovarian follicles. It is also used as a clinical marker for ovarian reserve in women undergoing assisted reproductive technologies.

Clinical significance

Mutations in the AMHR2 gene can lead to persistent Müllerian duct syndrome (PMDS), a rare disorder of sexual development in males. In this condition, males have normal external genitalia but also have a uterus and fallopian tubes, structures that are normally present only in females.

In addition, levels of AMH and its receptor can be used as a diagnostic tool for certain conditions, such as polycystic ovary syndrome (PCOS) and premature ovarian failure.

See also

• Anti-Müllerian hormone
• Müllerian duct
• Transforming growth factor-beta
• Transmembrane receptor

References

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  Annotated 3D AMHR2 protein showing key motifs