Reviewed May 2015
What is the official name of the ENAM gene?
The official name of this gene is “enamelin.”
ENAM is the gene's official symbol. The ENAM gene is also known by other names, listed below.
What is the normal function of the ENAM gene?
The ENAM gene provides instructions for making a protein called enamelin, which is essential for normal tooth development. Enamelin is involved in the formation of enamel, which is the hard, white material that forms the protective outer layer of each tooth. Enamel is composed mainly of mineral crystals. These microscopic crystals are arranged in organized bundles that give enamel its strength and durability. Although the exact function of enamelin is not well understood, this protein plays a key role in the formation and growth of crystals in developing enamel.
How are changes in the ENAM gene related to health conditions?
- amelogenesis imperfecta - caused by mutations in the ENAM gene
At least 14 mutations in the ENAM gene have been identified in people with a disorder of tooth development called amelogenesis imperfecta. Mutations in this gene cause autosomal dominant and autosomal recessive forms of this condition.
In the autosomal dominant form, one copy of the ENAM gene in each cell is altered. These mutations have a variety of effects on enamel formation. Some of these mutations reduce the amount of enamelin produced from one copy of the gene. Other mutations lead to the production of an abnormally short version of enamelin that is missing critical regions. A reduced amount of enamelin or an altered version of the protein can lead to severe problems with developing enamel or cause milder defects such as shallow pits or horizontal grooves in the teeth.
In the autosomal recessive form of amelogenesis imperfecta, two copies of the ENAM gene in each cell are altered. These mutations result in the production of an abnormal version of enamelin that prevents enamel from developing properly. People who inherit two mutated copies of the ENAM gene have severe defects in their enamel; as a result, this protective covering may be very thin or completely absent.
Where is the ENAM gene located?
Cytogenetic Location: 4q13.3
Molecular Location on chromosome 4: base pairs 70,628,744 to 70,646,819
(Homo sapiens Annotation Release 107, GRCh38.p2) (NCBI (http://www.ncbi.nlm.nih.gov/gene/10117))
The ENAM gene is located on the long (q) arm of chromosome 4 at position 13.3.
More precisely, the ENAM gene is located from base pair 70,628,744 to base pair 70,646,819 on chromosome 4.
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 ENAM?
You and your healthcare professional may find the following resources about ENAM helpful.
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=%28%28ENAM%5BTIAB%5D%29%20OR%20%28enamelin%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%201800%20days%22%5Bdp%5D)
- OMIM - Genetic disorder catalog (http://omim.org/entry/606585)
Research Resources - Tools for researchers
- HGNC Gene Symbol Report (http://www.genenames.org/cgi-bin/gene_symbol_report?q=data/hgnc_data.php&hgnc_id=3344)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/10117)
What other names do people use for the ENAM gene or gene products?
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 ENAM?
autosomal dominant ;
autosomal recessive ;
You may find definitions for these and many other terms in the Genetics Home Reference
- Chan HC, Estrella NM, Milkovich RN, Kim JW, Simmer JP, Hu JC. Target gene analyses of 39 amelogenesis imperfecta kindreds. Eur J Oral Sci. 2011 Dec;119 Suppl 1:311-23. doi: 10.1111/j.1600-0722.2011.00857.x. (http://www.ncbi.nlm.nih.gov/pubmed/22243262?dopt=Abstract)
- Hart PS, Michalec MD, Seow WK, Hart TC, Wright JT. Identification of the enamelin (g.8344delG) mutation in a new kindred and presentation of a standardized ENAM nomenclature. Arch Oral Biol. 2003 Aug;48(8):589-96. (http://www.ncbi.nlm.nih.gov/pubmed/12828988?dopt=Abstract)
- Hart TC, Hart PS, Gorry MC, Michalec MD, Ryu OH, Uygur C, Ozdemir D, Firatli S, Aren G, Firatli E. Novel ENAM mutation responsible for autosomal recessive amelogenesis imperfecta and localised enamel defects. J Med Genet. 2003 Dec;40(12):900-6. (http://www.ncbi.nlm.nih.gov/pubmed/14684688?dopt=Abstract)
- Kim JW, Seymen F, Lin BP, Kiziltan B, Gencay K, Simmer JP, Hu JC. ENAM mutations in autosomal-dominant amelogenesis imperfecta. J Dent Res. 2005 Mar;84(3):278-82. (http://www.ncbi.nlm.nih.gov/pubmed/15723871?dopt=Abstract)
- Kim JW, Simmer JP, Lin BP, Seymen F, Bartlett JD, Hu JC. Mutational analysis of candidate genes in 24 amelogenesis imperfecta families. Eur J Oral Sci. 2006 May;114 Suppl 1:3-12; discussion 39-41, 379. (http://www.ncbi.nlm.nih.gov/pubmed/16674655?dopt=Abstract)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/10117)
- Ozdemir D, Hart PS, Firatli E, Aren G, Ryu OH, Hart TC. Phenotype of ENAM mutations is dosage-dependent. J Dent Res. 2005 Nov;84(11):1036-41. (http://www.ncbi.nlm.nih.gov/pubmed/16246937?dopt=Abstract)
- Pavlic A, Petelin M, Battelino T. Phenotype and enamel ultrastructure characteristics in patients with ENAM gene mutations g.13185-13186insAG and 8344delG. Arch Oral Biol. 2007 Mar;52(3):209-17. Epub 2006 Nov 27. (http://www.ncbi.nlm.nih.gov/pubmed/17125728?dopt=Abstract)
- Simmer SG, Estrella NM, Milkovich RN, Hu JC. Autosomal dominant amelogenesis imperfecta associated with ENAM frameshift mutation p.Asn36Ilefs56. Clin Genet. 2013 Feb;83(2):195-7. doi: 10.1111/j.1399-0004.2012.01887.x. Epub 2012 Apr 29. (http://www.ncbi.nlm.nih.gov/pubmed/22540999?dopt=Abstract)
- Wright JT, Torain M, Long K, Seow K, Crawford P, Aldred MJ, Hart PS, Hart TC. Amelogenesis imperfecta: genotype-phenotype studies in 71 families. Cells Tissues Organs. 2011;194(2-4):279-83. doi: 10.1159/000324339. Epub 2011 May 19. (http://www.ncbi.nlm.nih.gov/pubmed/21597265?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.