AMBN

Ameloblastin (enamel matrix protein)
Identifiers
Symbols AMBN ; AI1F
External IDs OMIM: 601259 HomoloGene: 7625 GeneCards: AMBN Gene
Orthologs
Species Human Mouse
Entrez 258 11698
Ensembl ENSG00000178522 ENSMUSG00000029288
UniProt Q9NP70 O55189
RefSeq (mRNA) NM_016519 NM_001303431
RefSeq (protein) NP_057603 NP_001290360
Location (UCSC) Chr 4:
70.59 – 70.61 Mb		 Chr 5:
88.46 – 88.47 Mb
PubMed search

Ameloblastin (enamel matrix protein) is a protein that in humans is encoded by the AMBN gene. [1]

Function

Ameloblastin, also known as amelin, is a gene-specific protein found in tooth enamel. Although less than 5% of enamel consists of protein, ameloblastins comprise 5%-10% of all enamel protein. This protein is formed by ameloblasts during the early secretory to late maturation stages of amelogenesis. Although not completely understood, the function of ameloblastins is believed to be in controlling the elongation of enamel crystals and generally directing enamel mineralization during tooth development.

Other significant proteins in enamel are amelogenins, enamelins, and tuftelins.

This gene encodes the nonamelogenin enamel matrix protein ameloblastin. The encoded protein may be important in enamel matrix formation and mineralization. This gene is located in the calcium-binding phosphoprotein gene cluster on chromosome 4. Mutations in this gene may be associated with dentinogenesis imperfect and autosomal dominant amylogenesis imperfect. [provided by RefSeq, Aug 2011].

Clinical aspect

Mutations in AMBN cause amelogenesis imperfecta .[2]

References

  1. ↑ "Entrez Gene: Ameloblastin (enamel matrix protein)". Retrieved 2014-05-27.
  2. ↑ Poulter, J. A.; Murillo, G; Brookes, S. J.; Smith, C. E.; Parry, D. A.; Silva, S; Kirkham, J; Inglehearn, C. F.; Mighell, A. J. (2014). "Deletion of ameloblastin exon 6 is associated with amelogenesis imperfecta". Human Molecular Genetics 23: 5317–5324. doi:10.1093/hmg/ddu247. PMID 24858907.

Further reading

  • Bartlett, J. D.; Simmer, J. P. (1999). "Proteinases in developing dental enamel". Critical reviews in oral biology and medicine : an official publication of the American Association of Oral Biologists 10 (4): 425–41. doi:10.1177/10454411990100040101. PMID 10634581. 
  • MacDougall, M; Dupont, B. R.; Simmons, D; Reus, B; Krebsbach, P; Kärrman, C; Holmgren, G; Leach, R. J.; Forsman, K (1997). "Ameloblastin gene (AMBN) maps within the critical region for autosomal dominant amelogenesis imperfecta at chromosome 4q21". Genomics 41 (1): 115–8. doi:10.1006/geno.1997.4643. PMID 9126491. 
  • Kuroda, S; Wazen, R; Sellin, K; Tanaka, E; Moffatt, P; Nanci, A (2011). "Ameloblastin is not implicated in bone remodelling and repair". European cells & materials 22: 56–66; discussion 66–7. PMID 21761392. 
  • Perdigão, P. F.; Carvalho, V. M.; De Marco, L; Gomez, R. S. (2009). "Mutation of ameloblastin gene in calcifying epithelial odontogenic tumor". Anticancer research 29 (8): 3065–7. PMID 19661317. 
  • Tamburstuen, M. V.; Reseland, J. E.; Spahr, A; Brookes, S. J.; Kvalheim, G; Slaby, I; Snead, M. L.; Lyngstadaas, S. P. (2011). "Ameloblastin expression and putative autoregulation in mesenchymal cells suggest a role in early bone formation and repair". Bone 48 (2): 406–13. doi:10.1016/j.bone.2010.09.007. PMID 20854943. 
  • Toyosawa, S; Fujiwara, T; Ooshima, T; Shintani, S; Sato, A; Ogawa, Y; Sobue, S; Ijuhin, N (2000). "Cloning and characterization of the human ameloblastin gene". Gene 256 (1–2): 1–11. doi:10.1016/s0378-1119(00)00379-6. PMID 11054529. 
  • Patir, A; Seymen, F; Yildirim, M; Deeley, K; Cooper, M. E.; Marazita, M. L.; Vieira, A. R. (2008). "Enamel formation genes are associated with high caries experience in Turkish children". Caries Research 42 (5): 394–400. doi:10.1159/000154785. PMC 2820320. PMID 18781068. 
  • Lee, S. K.; Krebsbach, P. H.; Matsuki, Y; Nanci, A; Yamada, K. M.; Yamada, Y (1996). "Ameloblastin expression in rat incisors and human tooth germs". The International journal of developmental biology 40 (6): 1141–50. PMID 9032019. 
  • Niu, C. H.; Li, T. J. (November 2006). "[Mutation and polymorphism of the ameloblastin gene in ameloblastomas]". 中华口腔医学杂志 [Chinese journal of stomatology] (in Chinese) 41 (11): 678–81. PMID 17331365. 

This article incorporates text from the United States National Library of Medicine, which is in the public domain.


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