- ENAM
Enamelin, also known as ENAM, is a human
gene .cite web | title = Entrez Gene: ENAM enamelin| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=10117| accessdate = ]PBB_Summary
section_title =
summary_text = Dental enamel is a highly mineralized tissue with 85% of its volume occupied by unusually large, highly organized, hydroxyapatite crystals. This highly organized and unusual structure is thought to be rigorously controlled in ameloblasts through the interaction of a number of organic matrix molecules that include enamelin, amelogenin (AMELX; MIM 300391), ameloblastin (AMBN; MIM 601259), tuftelin (TUFT1; MIM 600087), dentine sialophosphoprotein (DSPP; MIM 125485), and a variety of enzymes. Enamelin is the largest protein in the enamel matrix of developing teeth and comprises approximately 5% of total enamel matrix protein. [supplied by OMIM] cite web | title = Entrez Gene: ENAM enamelin| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=10117| accessdate = ]References
Further reading
PBB_Further_reading
citations =
*cite journal | author=Hu JC, Yamakoshi Y |title=Enamelin and autosomal-dominant amelogenesis imperfecta. |journal=Crit. Rev. Oral Biol. Med. |volume=14 |issue= 6 |pages= 387–98 |year= 2003 |pmid= 14656895 |doi=
*cite journal | author=Gutierrez SJ, Chaves M, Torres DM, Briceño I |title=Identification of a novel mutation in the enamalin gene in a family with autosomal-dominant amelogenesis imperfecta. |journal=Arch. Oral Biol. |volume=52 |issue= 5 |pages= 503–6 |year= 2007 |pmid= 17316551 |doi= 10.1016/j.archoralbio.2006.09.014
*cite journal | author=Pavlic A, Petelin M, Battelino T |title=Phenotype and enamel ultrastructure characteristics in patients with ENAM gene mutations g.13185-13186insAG and 8344delG. |journal=Arch. Oral Biol. |volume=52 |issue= 3 |pages= 209–17 |year= 2007 |pmid= 17125728 |doi= 10.1016/j.archoralbio.2006.10.010
*cite journal | author=Ballif BA, Villén J, Beausoleil SA, "et al." |title=Phosphoproteomic analysis of the developing mouse brain. |journal=Mol. Cell Proteomics |volume=3 |issue= 11 |pages= 1093–101 |year= 2005 |pmid= 15345747 |doi= 10.1074/mcp.M400085-MCP200
*cite journal | author=Hart TC, Hart PS, Gorry MC, "et al." |title=Novel ENAM mutation responsible for autosomal recessive amelogenesis imperfecta and localised enamel defects. |journal=J. Med. Genet. |volume=40 |issue= 12 |pages= 900–6 |year= 2004 |pmid= 14684688 |doi=
*cite journal | author=Hart PS, Michalec MD, Seow WK, "et al." |title=Identification of the enamelin (g.8344delG) mutation in a new kindred and presentation of a standardized ENAM nomenclature. |journal=Arch. Oral Biol. |volume=48 |issue= 8 |pages= 589–96 |year= 2003 |pmid= 12828988 |doi=
*cite journal | author=Strausberg RL, Feingold EA, Grouse LH, "et al." |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899
*cite journal | author=Kida M, Ariga T, Shirakawa T, "et al." |title=Autosomal-dominant hypoplastic form of amelogenesis imperfecta caused by an enamelin gene mutation at the exon-intron boundary. |journal=J. Dent. Res. |volume=81 |issue= 11 |pages= 738–42 |year= 2002 |pmid= 12407086 |doi=
*cite journal | author=Mårdh CK, Bäckman B, Holmgren G, "et al." |title=A nonsense mutation in the enamelin gene causes local hypoplastic autosomal dominant amelogenesis imperfecta (AIH2). |journal=Hum. Mol. Genet. |volume=11 |issue= 9 |pages= 1069–74 |year= 2002 |pmid= 11978766 |doi=
*cite journal | author=Rajpar MH, Harley K, Laing C, "et al." |title=Mutation of the gene encoding the enamel-specific protein, enamelin, causes autosomal-dominant amelogenesis imperfecta. |journal=Hum. Mol. Genet. |volume=10 |issue= 16 |pages= 1673–7 |year= 2001 |pmid= 11487571 |doi=
*cite journal | author=Hartley JL, Temple GF, Brasch MA |title=DNA cloning using in vitro site-specific recombination. |journal=Genome Res. |volume=10 |issue= 11 |pages= 1788–95 |year= 2001 |pmid= 11076863 |doi=
*cite journal | author=Dong J, Gu TT, Simmons D, MacDougall M |title=Enamelin maps to human chromosome 4q21 within the autosomal dominant amelogenesis imperfecta locus. |journal=Eur. J. Oral Sci. |volume=108 |issue= 5 |pages= 353–8 |year= 2001 |pmid= 11037750 |doi=
*cite journal | author=Hu CC, Hart TC, Dupont BR, "et al." |title=Cloning human enamelin cDNA, chromosomal localization, and analysis of expression during tooth development. |journal=J. Dent. Res. |volume=79 |issue= 4 |pages= 912–9 |year= 2000 |pmid= 10831092 |doi=
*cite journal | author=Forsman K, Lind L, Bäckman B, "et al." |title=Localization of a gene for autosomal dominant amelogenesis imperfecta (ADAI) to chromosome 4q. |journal=Hum. Mol. Genet. |volume=3 |issue= 9 |pages= 1621–5 |year= 1995 |pmid= 7833920 |doi=PBB_Controls
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