ENAM

From Wikipedia, the free encyclopedia

Enamelin

Identifiers

ENAM; ADAI; AIH2

External IDs

OMIM: 606585 MGI: 1333772 HomoloGene: 9698

Gene ontology
Molecular Function:	• structural constituent of tooth enamel
Cellular Component:	• proteinaceous extracellular matrix
Biological Process:	• bone mineralization • odontogenesis

Orthologs

Human

Mouse

Refseq

NM_031889 (mRNA)
NP_114095 (protein)

XM_976899 (mRNA)
XP_981993 (protein)

Location

Chr 4: 71.71 - 71.73 Mb

Chr 5: 89.56 - 89.58 Mb

Pubmed search

[1]

[2]

Enamelin, also known as ENAM, is a human gene.^[1]

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]^[1]

[edit] References

^ ^a ^b Entrez Gene: ENAM enamelin.

[edit] Further reading

Hu JC, Yamakoshi Y (2003). "Enamelin and autosomal-dominant amelogenesis imperfecta.". Crit. Rev. Oral Biol. Med. 14 (6): 387–98. PMID 14656895.
Gutierrez SJ, Chaves M, Torres DM, Briceño I (2007). "Identification of a novel mutation in the enamalin gene in a family with autosomal-dominant amelogenesis imperfecta.". Arch. Oral Biol. 52 (5): 503–6. doi:10.1016/j.archoralbio.2006.09.014. PMID 17316551.
Pavlic A, Petelin M, Battelino T (2007). "Phenotype and enamel ultrastructure characteristics in patients with ENAM gene mutations g.13185-13186insAG and 8344delG.". Arch. Oral Biol. 52 (3): 209–17. doi:10.1016/j.archoralbio.2006.10.010. PMID 17125728.
Ballif BA, Villén J, Beausoleil SA, et al. (2005). "Phosphoproteomic analysis of the developing mouse brain.". Mol. Cell Proteomics 3 (11): 1093–101. doi:10.1074/mcp.M400085-MCP200. PMID 15345747.
Hart TC, Hart PS, Gorry MC, et al. (2004). "Novel ENAM mutation responsible for autosomal recessive amelogenesis imperfecta and localised enamel defects.". J. Med. Genet. 40 (12): 900–6. PMID 14684688.
Hart PS, Michalec MD, Seow WK, et al. (2003). "Identification of the enamelin (g.8344delG) mutation in a new kindred and presentation of a standardized ENAM nomenclature.". Arch. Oral Biol. 48 (8): 589–96. PMID 12828988.
Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932.
Kida M, Ariga T, Shirakawa T, et al. (2002). "Autosomal-dominant hypoplastic form of amelogenesis imperfecta caused by an enamelin gene mutation at the exon-intron boundary.". J. Dent. Res. 81 (11): 738–42. PMID 12407086.
Mårdh CK, Bäckman B, Holmgren G, et al. (2002). "A nonsense mutation in the enamelin gene causes local hypoplastic autosomal dominant amelogenesis imperfecta (AIH2).". Hum. Mol. Genet. 11 (9): 1069–74. PMID 11978766.
Rajpar MH, Harley K, Laing C, et al. (2001). "Mutation of the gene encoding the enamel-specific protein, enamelin, causes autosomal-dominant amelogenesis imperfecta.". Hum. Mol. Genet. 10 (16): 1673–7. PMID 11487571.
Hartley JL, Temple GF, Brasch MA (2001). "DNA cloning using in vitro site-specific recombination.". Genome Res. 10 (11): 1788–95. PMID 11076863.
Dong J, Gu TT, Simmons D, MacDougall M (2001). "Enamelin maps to human chromosome 4q21 within the autosomal dominant amelogenesis imperfecta locus.". Eur. J. Oral Sci. 108 (5): 353–8. PMID 11037750.
Hu CC, Hart TC, Dupont BR, et al. (2000). "Cloning human enamelin cDNA, chromosomal localization, and analysis of expression during tooth development.". J. Dent. Res. 79 (4): 912–9. PMID 10831092.
Forsman K, Lind L, Bäckman B, et al. (1995). "Localization of a gene for autosomal dominant amelogenesis imperfecta (ADAI) to chromosome 4q.". Hum. Mol. Genet. 3 (9): 1621–5. PMID 7833920.