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Genetics Home Reference: your guide to understanding genetic conditions
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AMH

Reviewed March 2011

What is the official name of the AMH gene?

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.

What is the normal function of the AMH gene?

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.

How are changes in the AMH gene related to health conditions?

persistent Müllerian duct syndrome - caused by mutations in the AMH gene

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.

Where is the AMH gene located?

Cytogenetic Location: 19p13.3

Molecular Location on chromosome 19: base pairs 2,249,112 to 2,252,071

The AMH gene is located on the short (p) arm of chromosome 19 at position 13.3.

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 2,249,112 to base pair 2,252,071 on chromosome 19.

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 AMH?

You and your healthcare professional may find the following resources about AMH 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 AMH (http://www.ncbi.nlm.nih.gov/gtr/tests/?term=268%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=((AMH%5BTIAB%5D)%20OR%20(anti-Mullerian%20hormone%5BTIAB%5D))%20AND%20((Genes%5BMH%5D)%20OR%20(Genetic%20Phenomena%5BMH%5D))%20AND%20english%5Bla%5D%20AND%20human%5Bmh%5D%20AND%20%22last%201080%20days%22%5Bdp%5D)
  • OMIM - Genetic disorder catalog (http://omim.org/entry/600957)

  • Research Resources - Tools for researchers

    • Atlas of Genetics and Cytogenetics in Oncology and Haematology (http://atlasgeneticsoncology.org/Genes/GC_AMH.html)
    • Entrez Gene (http://www.ncbi.nlm.nih.gov/gene/268)
    • GeneCards (http://www.genecards.org/cgi-bin/carddisp.pl?id_type=entrezgene&id=268)
    • HUGO Gene Nomenclature Committee (http://www.genenames.org/data/hgnc_data.php?hgnc_id=464)

What other names do people use for the AMH gene or gene products?

  • anti-Muellerian hormone
  • MIF
  • MIS
  • muellerian-inhibiting factor
  • muellerian-inhibiting substance
  • Mullerian inhibiting factor
  • Mullerian inhibiting substance

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 AMH?

acids ; apoptosis ; differentiation ; DNA ; duct ; gene ; hormone ; protein ; receptor ; syndrome ; testes

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

References

  • Belville C, Van Vlijmen H, Ehrenfels C, Pepinsky B, Rezaie AR, Picard JY, Josso N, di Clemente N, Cate RL. Mutations of the anti-mullerian hormone gene in patients with persistent mullerian duct syndrome: biosynthesis, secretion, and processing of the abnormal proteins and analysis using a three-dimensional model. Mol Endocrinol. 2004 Mar;18(3):708-21. Epub 2003 Dec 12. (http://www.ncbi.nlm.nih.gov/pubmed/14673134?dopt=Abstract)
  • Entrez Gene (http://www.ncbi.nlm.nih.gov/gene/268)
  • 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)
  • OMIM: ANTI-MULLERIAN HORMONE (http://omim.org/entry/600957)
  • 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 healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: March 2011
Published: May 20, 2013