Description
Product Characteristics:
MISR II is a 573 amino acid protein encoded by the human gene AMHR2. MISR II belongs to the protein kinase superfamily, TKL Ser/Thr protein kinase family, TGFB receptor subfamily and contains one protein kinase domain. Upon ligand binding, MISR II forms a receptor complex consisting of two type II and two type I transmembrane serine/threonine kinases. These type II receptors rylate and activate type I receptors which autophosphorylate, then bind and activate Smad transcriptional regulators. MISR II also acts as a receptor for anti-Muellerian hormone. Defects in AMHR2 are the cause of persistent Muellerian duct syndrome type 2 (PMDS-2). PMDS-2 is a form of male pseudo-hermaphroditism characterized by a failure of Muellerian duct regression in otherwise normal males.
Subcellular location: Cell membrane
Synonyms: AMH type II receptor, AMHR2, AMHR2_HUMAN, Anti-Muellerian hormone type II receptor, Anti-Muellerian hormone type-2 receptor, MGC141312, MIS type II receptor, MISRII, MRII, Muellerian hormone type 2 receptor, Muellerian hormone type II receptor, Mullerian hormone receptor type II.
Target Information: 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]