AMHR2 gene
anti-Mullerian hormone receptor type 2
The AMHR2 gene provides instructions for making the anti-Müllerian hormone (AMH) receptor type 2, which is involved in male sex differentiation. The AMH receptor type 2 is found on the surface of Müllerian duct cells. The Müllerian duct, found in both male and female fetuses, is the precursor to the female reproductive organs. During development of male fetuses, cells of the testes release a protein called the AMH protein. The AMH protein attaches (binds) to the AMH receptor type 2, which signals self-destruction (apoptosis) of the Müllerian duct cells. As a result, the Müllerian duct breaks down (regresses) in males. In females, who do not produce the AMH protein during fetal development, the Müllerian duct becomes the uterus and fallopian tubes.
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Persistent Müllerian duct syndrome type 2, a disorder of sexual development that affects males, is caused by mutations in the AMHR2 gene. Males with this condition have female reproductive organs in addition to normal male reproductive organs. At least 24 mutations in the AMHR2 gene have been identified in people with persistent Müllerian duct syndrome type 2. Most mutations change single protein building blocks (amino acids) in the AMH receptor type 2 protein. Other mutations result in a premature stop signal that leads to an abnormally short protein. Still other mutations delete regions of DNA from the AMHR2 gene, which changes the instructions for the protein. The most common mutation, a deletion of 27 DNA building blocks (nucleotides), occurs in about half of affected individuals with an AMHR2 gene mutation.
Mutations in the AMHR2 gene lead to an abnormal protein that is stuck inside the Müllerian duct cells and not found on the surface. Therefore, the cells cannot receive the signal for apoptosis. As a result, the Müllerian duct persists and becomes a uterus and fallopian tubes. Because the AMH receptor type 2 is not involved in the formation of male reproductive organs, affected males also have male reproductive organs.
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Cytogenetic Location: 12q13, which is the long (q) arm of chromosome 12 at position 13
Molecular Location: base pairs 53,423,855 to 53,431,672 on chromosome 12 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)
Related Information
- AMH type II receptor
- AMHR
- AMHR2_HUMAN
- anti-Muellerian hormone type-2 receptor
- anti-Muellerian hormone type II receptor
- anti-Mullerian hormone receptor type II
- anti-Mullerian hormone receptor, type II
- MIS type II receptor
- MISR2
- MISRII
- MRII
- Mullerian inhibiting substance type II receptor
Related Information
- OMIM: ANTI-MULLERIAN HORMONE TYPE II RECEPTOR
- Faure E, Gouédard L, Imbeaud S, Cate R, Picard JY, Josso N, di Clemente N. Mutant isoforms of the anti-Müllerian hormone type II receptor are not expressed at the cell membrane. J Biol Chem. 1996 Nov 29;271(48):30571-5.
- Imbeaud S, Belville C, Messika-Zeitoun L, Rey R, di Clemente N, Josso N, Picard JY. A 27 base-pair deletion of the anti-müllerian type II receptor gene is the most common cause of the persistent müllerian duct syndrome. Hum Mol Genet. 1996 Sep;5(9):1269-77.
- Josso N, Belville C, di Clemente N, Picard JY. AMH and AMH receptor defects in persistent Müllerian duct syndrome. Hum Reprod Update. 2005 Jul-Aug;11(4):351-6. Epub 2005 May 5. Review.
- Josso N, Picard JY, Imbeaud S, di Clemente N, Rey R. Clinical aspects and molecular genetics of the persistent müllerian duct syndrome. Clin Endocrinol (Oxf). 1997 Aug;47(2):137-44. Review.
- Rey R. Anti-Müllerian hormone in disorders of sex determination and differentiation. Arq Bras Endocrinol Metabol. 2005 Feb;49(1):26-36. Epub 2006 Mar 16. Review.
