Reviewed March 2011
What is the official name of the AMHR2 gene?
The official name of this gene is “anti-Mullerian hormone receptor, type II.”
AMHR2 is the gene's official symbol. The AMHR2 gene is also known by other names, listed below.
What is the normal function of the AMHR2 gene?
The AMHR2 gene provides instructions for making the anti-Müllerian hormone (AMH) receptor type II, which is involved in male sex differentiation. The AMH receptor type II 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 II, 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.
How are changes in the AMHR2 gene related to health conditions?
- persistent Müllerian duct syndrome - caused by mutations in the AMHR2 gene
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 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 AMH 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 II is not involved in the formation of male reproductive organs, affected males also have male reproductive organs.
Where is the AMHR2 gene located?
Cytogenetic Location: 12q13
Molecular Location on chromosome 12: base pairs 53,423,855 to 53,431,534
(Homo sapiens Annotation Release 107, GRCh38.p2) (NCBI (http://www.ncbi.nlm.nih.gov/gene/269))
The AMHR2 gene is located on the long (q) arm of chromosome 12 at position 13.
More precisely, the AMHR2 gene is located from base pair 53,423,855 to base pair 53,431,534 on chromosome 12.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
Where can I find additional information about AMHR2?
You and your healthcare professional may find the following resources about AMHR2 helpful.
Educational resources - Information pages
- An Introduction to Genetic Analysis (seventh edition, 2000): Development of the Urogenital System (http://www.ncbi.nlm.nih.gov/books/NBK21846/figure/A3724/)
- StemBook (2008): Müllerian Duct Formation and Neonatal Development (http://www.ncbi.nlm.nih.gov/books/NBK27042/)
Genetic Testing Registry - Repository of genetic test information
- GTR: Genetic tests for AMHR2 (http://www.ncbi.nlm.nih.gov/gtr/tests/?term=269%5Bgeneid%5D)
You may also be interested in these resources, which are designed for genetics professionals and researchers.
- PubMed - Recent literature (http://www.ncbi.nlm.nih.gov/pubmed?term=%28AMHR2%5BTIAB%5D%29%20OR%20%28%28AMH%20type%20II%20receptor%5BTIAB%5D%29%20OR%20%28AMHR%5BTIAB%5D%29%20OR%20%28MIS%20type%20II%20receptor%5BTIAB%5D%29%20OR%20%28MISR2%5BTIAB%5D%29%20OR%20%28MISRII%5BTIAB%5D%29%20OR%20%28MRII%5BTIAB%5D%29%20OR%20%28Mullerian%20inhibiting%20substance%20type%20II%20receptor%5BTIAB%5D%29%29%20AND%20%28%28Genes%5BMH%5D%29%20OR%20%28Genetic%20Phenomena%5BMH%5D%29%29%20AND%20english%5Bla%5D%20AND%20human%5Bmh%5D%20AND%20%22last%202880%20days%22%5Bdp%5D)
- OMIM - Genetic disorder catalog (http://omim.org/entry/600956)
Research Resources - Tools for researchers
- Atlas of Genetics and Cytogenetics in Oncology and Haematology (http://atlasgeneticsoncology.org/Genes/GC_AMHR2.html)
- HGNC Gene Family: Type II receptor serine/threonine kinases (http://www.genenames.org/cgi-bin/genefamilies/set/346)
- HGNC Gene Symbol Report (http://www.genenames.org/cgi-bin/gene_symbol_report?q=data/hgnc_data.php&hgnc_id=465)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/269)
What other names do people use for the AMHR2 gene or gene products?
- AMH type II receptor
- anti-Muellerian hormone type-2 receptor
- anti-Muellerian hormone type II receptor
- MIS type II receptor
- Mullerian inhibiting substance type II receptor
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
What glossary definitions help with understanding AMHR2?
You may find definitions for these and many other terms in the Genetics Home Reference
- OMIM: ANTI-MULLERIAN HORMONE TYPE II RECEPTOR (http://omim.org/entry/600956)
- 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. (http://www.ncbi.nlm.nih.gov/pubmed/8940028?dopt=Abstract)
- 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. (http://www.ncbi.nlm.nih.gov/pubmed/8872466?dopt=Abstract)
- 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. (http://www.ncbi.nlm.nih.gov/pubmed/15878900?dopt=Abstract)
- 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. (http://www.ncbi.nlm.nih.gov/pubmed/9302384?dopt=Abstract)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/269)
- 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. (http://www.ncbi.nlm.nih.gov/pubmed/16544032?dopt=Abstract)
The resources on this site should not be used as a substitute for
professional medical care or advice. Users seeking information about
a personal genetic disease, syndrome, or condition should consult with a qualified
See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.