AMHR2
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.
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.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family. TGFB receptor subfamily.
Cellular localization
- Membrane
- Single-pass type I membrane protein
Alternative names
AMHR, MISR2, AMHR2, Anti-Muellerian hormone type-2 receptor, Anti-Muellerian hormone type II receptor, MIS type II receptor, AMH type II receptor, MISRII, MRII