AMHR2

AMHR2 or Anti-Müllerian hormone receptor type II is a protein that in humans is encoded by the AMHR2 gene. This receptor is instrumental in the Müllerian ducts' regression during the sexual differentiation process in male embryos.

Function

The AMHR2 protein is a serine/threonine kinase receptor. It binds to the Anti-Müllerian hormone (AMH), also known as Müllerian-inhibiting substance (MIS), to initiate a series of reactions that lead to the regression of the Müllerian ducts. These ducts would otherwise develop into the uterus and fallopian tubes in female embryos.

Clinical significance

Mutations in the AMHR2 gene can lead to Persistent Müllerian duct syndrome (PMDS), a rare disorder of sexual development. Males with PMDS have normal testes and male external genitalia, but they also have a uterus and fallopian tubes due to the failure of the Müllerian ducts to regress.

See also

• AMH (gene)
• Sexual differentiation
• Persistent Müllerian duct syndrome

External links

• [1] NCBI Gene
• [2] Genetics Home Reference