AMHR2

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.

Full Name

ANTI-MULLERIAN HORMONE RECEPTOR TYPE 2

Function

On ligand binding, forms a receptor complex consisting of two type II and two type I transmembrane serine/threonine kinases. Type II receptors phosphorylate and activate type I receptors which autophosphorylate, then bind and activate SMAD transcriptional regulators. Receptor for anti-Muellerian hormone.

Biological Process

Activin receptor signaling pathway Source: GO_Central
Anti-Mullerian hormone signaling pathway Source: UniProtKB
BMP signaling pathway Source: Reactome
Cellular response to growth factor stimulus Source: GO_Central
Female gonad development Source: Ensembl
Male gonad development Source: Ensembl
Mullerian duct regression Source: UniProtKB
Protein phosphorylation Source: GO_Central
Sex differentiation Source: UniProtKB
Transforming growth factor beta receptor signaling pathway Source: GO_Central

Cellular Location

Membrane

Involvement in disease

Persistent Muellerian duct syndrome 2 (PMDS2): A form of male pseudohermaphroditism characterized by a failure of Muellerian duct regression in otherwise normal males.

Topology

Extracellular: 18-149 aa
Helical: 150-170 aa
Cytoplasmic: 171-573 aa