Aliases for AMHR2 Gene
External Ids for AMHR2 Gene
Previous GeneCards Identifiers for AMHR2 Gene
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]
GeneCards Summary for AMHR2 Gene
AMHR2 (Anti-Mullerian Hormone Receptor Type 2) is a Protein Coding gene. Diseases associated with AMHR2 include Persistent Mullerian Duct Syndrome, Types I And Ii and Persistent Mullerian Duct Syndrome. Among its related pathways are TGF-beta signaling pathway (KEGG) and Wnt / Hedgehog / Notch. Gene Ontology (GO) annotations related to this gene include transferase activity, transferring phosphorus-containing groups and protein tyrosine kinase activity. An important paralog of this gene is BMPR2.
UniProtKB/Swiss-Prot for AMHR2 Gene
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.