AMBN

AMBN
Identifiers
Aliases AMBN, AI1F, ameloblastin
External IDs MGI: 104655 HomoloGene: 7625 GeneCards: AMBN
Orthologs
Species Human Mouse
Entrez

258

11698

Ensembl

ENSG00000178522

ENSMUSG00000029288

UniProt

Q9NP70

O55189

RefSeq (mRNA)

NM_016519

NM_009664
NM_001303431

RefSeq (protein)

NP_057603.1

NP_033794.1

Location (UCSC) Chr 4: 70.59 – 70.61 Mb Chr 5: 88.46 – 88.47 Mb
PubMed search [1] [2]
Wikidata
View/Edit HumanView/Edit Mouse

Ameloblastin (enamel matrix protein) is a protein that in humans is encoded by the AMBN gene. [3]

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 .[4]

References

  1. ↑ "Human PubMed Reference:".
  2. ↑ "Mouse PubMed Reference:".
  3. ↑ "Entrez Gene: Ameloblastin (enamel matrix protein)". Retrieved 2014-05-27.
  4. ↑ 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. 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 2820320Freely accessible. 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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