|http://ghr.nlm.nih.gov/ A service of the U.S. National Library of Medicine®|
The official name of this gene is “anti-Mullerian hormone.”
AMH is the gene's official symbol. The AMH gene is also known by other names, listed below.
The AMH gene provides instructions for making a protein that is involved in male sex differentiation. During development of male fetuses, the AMH protein is produced and released (secreted) by cells of the testes. The secreted protein attaches (binds) to its receptor, which 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. Binding of the AMH protein to its receptor induces 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.
The AMH gene belongs to a family of genes called endogenous ligands (endogenous ligands).
A gene family is a group of genes that share important characteristics. Classifying individual genes into families helps researchers describe how genes are related to each other. For more information, see What are gene families? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genefamilies) in the Handbook.
Persistent Müllerian duct syndrome type 1, a disorder of sexual development that affects males, is caused by mutations in the AMH gene. Males with this condition have female reproductive organs in addition to normal male reproductive organs. At least 38 mutations in the AMH gene have been identified in people with persistent Müllerian duct syndrome type 1. 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 mutated AMH protein cannot be released from the cells of the testes or cannot bind to the receptor on the Müllerian duct cells. As a result, the Müllerian duct cells never receive the signal for apoptosis. The Müllerian duct persists and becomes a uterus and fallopian tubes. Because the AMH protein is not involved in the formation of male reproductive organs, affected males also have male reproductive organs.
Cytogenetic Location: 19p13.3
Molecular Location on chromosome 19: base pairs 2,249,113 to 2,252,072
The AMH gene is located on the short (p) arm of chromosome 19 at position 13.3.
More precisely, the AMH gene is located from base pair 2,249,113 to base pair 2,252,072 on chromosome 19.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
You and your healthcare professional may find the following resources about AMH helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
acids ; apoptosis ; differentiation ; DNA ; duct ; gene ; hormone ; precursor ; protein ; receptor ; syndrome ; testes
You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://ghr.nlm.nih.gov/glossary).
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 healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.