AMHR2 (gene)

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Identifiers
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External IDs	GeneCards: [1]
Orthologs
Species	Human	Mouse
Entrez	n/a	n/a
Ensembl	n/a	n/a
UniProt	n/a	n/a
RefSeq (mRNA)	n/a	n/a
RefSeq (protein)	n/a	n/a
Location (UCSC)	n/a	n/a
PubMed search	n/a	n/a
Wikidata
View/Edit Human

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

• Teixeira J, Maheswaran S, Donahoe PK (October 2001). "Müllerian inhibiting substance: an instructive developmental hormone with diagnostic and possible therapeutic applications". Endocr. Rev. 22 (5): 657–74. doi:10.1210/edrv.22.5.0445. PMID 11588147.
• Picard JY, Belville C (2002). "[Genetics and molecular pathology of anti-Mullerian hormone and its receptor]". J. Soc. Biol. (in French). 196 (3): 217–21. PMID 12462075.CS1 maint: Unrecognized language (link)
• Wang HQ, Takakura K, Takebayashi K, Noda Y (December 2002). "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. PMID 12477536.
• Salhi I, Cambon-Roques S, Lamarre I, Laune D, Molina F, Pugnière M, Pourquier D, Gutowski M, Picard JY, Xavier F, Pèlegrin A, Navarro-Teulon I (May 2004). "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. doi:10.1042/BJ20031961. PMC 1224123. PMID 14750901.
• Kevenaar ME, Themmen AP, Laven JS, Sonntag B, Fong SL, Uitterlinden AG, de Jong FH, Pols HA, Simoni M, Visser JA (June 2007). "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. doi:10.1093/humrep/dem036. PMID 17337470.
• Kevenaar ME, Themmen AP, Laven JS, Sonntag B, Fong SL, Uitterlinden AG, de Jong FH, Pols HA, Simoni M, Visser JA (June 2007). "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. doi:10.1093/humrep/dem036. PMID 17337470.
• Kevenaar ME, Themmen AP, Rivadeneira F, Uitterlinden AG, Laven JS, van Schoor NM, Lips P, Pols HA, Visser JA (September 2007). "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. doi:10.1093/humrep/dem176. PMID 17636279.
• Kevenaar ME, Themmen AP, Rivadeneira F, Uitterlinden AG, Laven JS, van Schoor NM, Lips P, Pols HA, Visser JA (September 2007). "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. doi:10.1093/humrep/dem176. PMID 17636279.
• Bakkum-Gamez JN, Aletti G, Lewis KA, Keeney GL, Thomas BM, Navarro-Teulon I, Cliby WA (January 2008). "Müllerian inhibiting substance type II receptor (MISIIR): a novel, tissue-specific target expressed by gynecologic cancers". Gynecol. Oncol. 108 (1): 141–8. 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.