Biology:Anti-mullerian hormone receptor type 2

Generic protein structure example

Anti-Mullerian hormone receptor type 2 is a protein that in humans is encoded by the AMHR2 gene.

Function

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].

Further reading

• "Müllerian inhibiting substance: an instructive developmental hormone with diagnostic and possible therapeutic applications". Endocr. Rev. 22 (5): 657–74. October 2001. doi:10.1210/edrv.22.5.0445. PMID 11588147. 
• "[Genetics and molecular pathology of anti-Mullerian hormone and its receptor]" (in French). J. Soc. Biol. 196 (3): 217–21. 2002. PMID 12462075. 
• "Mutational analysis of the müllerian-inhibiting substance gene and its receptor gene in Japanese women with polycystic ovary syndrome and premature ovarian failure". Fertil. Steril. 78 (6): 1329–30. December 2002. PMID 12477536. 
• "The anti-Müllerian hormone type II receptor: insights into the binding domains recognized by a monoclonal antibody and the natural ligand". Biochem. J. 379 (Pt 3): 785–93. May 2004. doi:10.1042/BJ20031961. PMID 14750901. 
• "Anti-Müllerian hormone and anti-Müllerian hormone type II receptor polymorphisms are associated with follicular phase estradiol levels in normo-ovulatory women". Hum. Reprod. 22 (6): 1547–54. June 2007. doi:10.1093/humrep/dem036. PMID 17337470. 
• "Anti-Müllerian hormone and anti-Müllerian hormone type II receptor polymorphisms are associated with follicular phase estradiol levels in normo-ovulatory women". Hum. Reprod. 22 (6): 1547–54. June 2007. doi:10.1093/humrep/dem036. PMID 17337470. 
• "A polymorphism in the AMH type II receptor gene is associated with age at menopause in interaction with parity". Hum. Reprod. 22 (9): 2382–8. September 2007. doi:10.1093/humrep/dem176. PMID 17636279. 
• "A polymorphism in the AMH type II receptor gene is associated with age at menopause in interaction with parity". Hum. Reprod. 22 (9): 2382–8. September 2007. doi:10.1093/humrep/dem176. PMID 17636279. 
• "Müllerian inhibiting substance type II receptor (MISIIR): a novel, tissue-specific target expressed by gynecologic cancers". Gynecol. Oncol. 108 (1): 141–8. January 2008. doi:10.1016/j.ygyno.2007.09.010. PMID 17988723. 

This article incorporates text from the United States National Library of Medicine, which is in the public domain.