Disease-gene associations mined from literature

Literature associating AMHR2 and disorders of sexual development

AMHR2 [ENSP00000257863]

Anti-Muellerian hormone type II receptor; 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.

Synonyms:  AMHR2,  AMHR2p,  hAMHR2,  H3BPI9,  Q16671 ...

Linkouts:  STRING  Pharos  UniProt  OMIM