2024年12月24日 · 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.

2025年2月8日 · Data show that anti-Mullerian hormone receptor type 2 (AMHR2) homozygous mutation was found in both cases. AMHR2 single nucleotide polymorphism is not associated with Endometriosis-associated infertility.

Anti-Müllerian hormone receptor, also known as Müllerian Inhibiting Substance Type II Receptor, is a receptor for the anti-Müllerian hormone (AMH). Furthermore, anti-Müllerian hormone receptor type 2 is a protein in humans that is encoded by the AMHR2 gene. [5]

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].

2016年7月19日 · 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) …

Anti‐Müllerian hormone receptor type 2 (AMHR2) is a receptor highly expressed in ovarian cancer and it is a potential target antigen for immunotherapy. Extracellular domain of AMHR2 was analysed in terms of 3D structure and physicochemical properties, and 3 peptide sequences (Peptides 1, 7 and 11) were determined as targets.

该基因编码的蛋白可启动抗苗勒管激素受体活性。 作用于抗苗勒管激素信号通路的上游或内部；抗苗勒管激素信号通路的负调控；和性别分化。 预计是质膜的组成部分。 预计是激活素受体复合物的一部分。 预计在质膜上有活性。 以多种结构表达，包括早期胚胎；前脑;泌尿生殖系统；和鼻子。 用于研究持续性苗勒管综合征。 该基因的人类直系同源物与持续性苗勒管综合征有关。 与人类 AMHR2（抗苗勒管激素受体 2 型）同源。 [由基因组资源联盟提供，2022 年 4 月] Enables …

该基因编码抗苗勒管激素 (AMH) 的受体，除了睾丸激素外，该激素还会导致男性性别分化。 AMH 和睾丸激素在睾丸中由不同的细胞产生，具有不同的作用。 睾酮促进男性生殖器的发育，而 AMH 与编码受体的结合可防止苗勒管发育成子宫和输卵管。 该基因的突变与持续性苗勒管综合征 II 型有关。 已经鉴定出编码不同亚型的选择性剪接转录物变体。 [RefSeq 提供，2009 年 9 月] This gene encodes the receptor for the anti-Mullerian hormone (AMH) which, in addition to testosterone, …

2025年1月4日 · 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.

2024年3月5日 · Title: Identification of AMH and AMHR2 Variants Led to the Diagnosis of Persistent Müllerian Duct Syndrome in Three Cases. Assessment of Anti-Mullerian Hormone and Anti-Mullerian Hormone Type II Receptor Variants in Women with Repeated Implantation Failures.