Dec 24, 2024 · AMHR2 (Anti-Mullerian Hormone Receptor Type 2) is a Protein Coding gene. Diseases associated with AMHR2 include Persistent Mullerian Duct Syndrome and Persistent Mullerian Duct Syndrome, Types I And Ii. Among its related pathways are Signaling by TGFB family members and Signaling by BMP.

Persistent Müllerian duct syndrome (PMDS) is an autosomal recessive disorder of male sexual development, caused by mutations in the AMH gene on chromosome 19p13 or the AMH type II receptor (AMHR2) gene on chromosome 12q13 [3].

Feb 8, 2025 · Mutations of AMHR2 found in persistent Mullerian duct syndrome affect its ligand binding and cellular transport. Non-epithelial malignant ovarian tumors showed stronger expression of anti-Mullerian hormone receptor type II than that of epithelial tumors.

The AMHR2 gene provides instructions for making the anti-Müllerian hormone (AMH) receptor type 2, which is involved in male sex differentiation. Learn about this gene and related health conditions.

Jul 19, 2016 · Anti-Müllerian hormone (AMH) and its type II receptor AMHR2, both previously thought to primarily function in gonadal tissue, were unexpectedly identified as potent regulators of transforming growth factor (TGF-β)/bone morphogenetic protein (BMP) signaling and epithelial-mesenchymal transition (EMT) …

Jan 4, 2025 · Analyzing the possible involvement of anti-Müllerian hormone and anti-Müllerian hormone receptor II single nucleotide polymorphism in infertility. A dominant negative mutation at the ATP binding domain of AMHR2 is associated with a defective anti-Müllerian hormone signaling pathway.

AMH or AMHR2 mutations in mammals lead to the development of Persistent Müllerian Duct Syndrome (PMDS), a recessive condition in which affected males are fully virilized but retain Müllerian duct-derived tissues, including a uterus and oviducts, and in human and dog, undescended testes.

Aug 29, 2024 · Anti-Müllerian hormone (AMH) is a peptide belonging to the transforming growth factor beta superfamily and acts exclusively through its receptor type 2 (AMHR2). From the 8 th week of pregnancy, AMH is produced by Sertoli cells, and from the 23 rd week of gestation, it is produced by granulosa cells of the ovary.

Jun 28, 2010 · The AMH receptor (AMHR or AMHR2) is a serine/threonine kinase with a single transmembrane domain belonging to the family of type II receptors for TGF-beta-related proteins. Type II receptors bind the ligand on their own but require the presence of a type I receptor for signal transduction.

Mar 5, 2024 · 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.