AMH Gene: Anti-Müllerian Hormone – Function, Mutations, and Clinical Significance

The AMH gene encodes Anti-Müllerian hormone, a glycoprotein belonging to the transforming growth factor-beta (TGF-β) superfamily. In male embryos, AMH is secreted by Sertoli cells of the testes and induces regression of the Müllerian ducts, which would otherwise develop into the uterus, fallopian tubes, and upper vagina. In females, AMH is produced by granulosa cells of ovarian follicles and serves as a marker of ovarian reserve. Mutations in AMH cause persistent Müllerian duct syndrome (PMDS) in males, characterized by the presence of Müllerian derivatives. AMH is also implicated in certain reproductive disorders and cancers.

Tissue Expression

Cell Line Expression

Hotspot Mutations

Mutation functional classification

• TGF-beta signaling pathway (KEGG: hsa04350)

• Signaling by TGF-beta family members (Reactome: R-HSA-9006936)

• Müllerian duct regression (Reactome: R-HSA-1474224)

Anti-Müllerian hormone (AMH) is a 560-amino-acid precursor protein (UniProt P03971) that is cleaved into a 25-kDa mature dimer. It is a member of the TGF-β superfamily and signals through AMH receptor type 2 (AMHR2). The protein is synthesized as a preprohormone, with a signal peptide (residues 1–24), a prodomain (residues 25–451), and a mature C-terminal domain (residues 452–560) that contains the receptor-binding region. AMH is highly conserved across mammals and plays a critical role in sexual differentiation and reproductive function.