Ameloblastin

Ameloblastin (abbreviated AMBN and also known as Sheathlin or Amelin) is an enamel matrix protein that in humans is encoded by the AMBN gene.[5]

AMBN
Identifiers
AliasesAMBN, AI1F, Sheathlin, ameloblastin
External IDsOMIM: 601259 MGI: 104655 HomoloGene: 7625 GeneCards: AMBN
Gene location (Human)
Chr.Chromosome 4 (human)[1]
Band4q13.3Start70,592,256 bp[1]
End70,607,288 bp[1]
Orthologs
SpeciesHumanMouse
Entrez

258

11698

Ensembl

ENSG00000178522

ENSMUSG00000029288

UniProt

Q9NP70

O55189

RefSeq (mRNA)

NM_016519

NM_009664
NM_001303431

RefSeq (protein)

NP_057603

NP_001290360
NP_033794

Location (UCSC)Chr 4: 70.59 – 70.61 MbChr 5: 88.46 – 88.47 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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 imperfecta and autosomal dominant amelogenesis imperfecta. [provided by RefSeq, Aug 2011].

Clinical significance

Mutations in AMBN cause amelogenesis imperfecta.[6]

References
  1. GRCh38: Ensembl release 89: ENSG00000178522 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000029288 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. "Entrez Gene: Ameloblastin (enamel matrix protein)".
  6. Poulter JA, Murillo G, Brookes SJ, Smith CE, Parry DA, Silva S, Kirkham J, Inglehearn CF, Mighell AJ (October 2014). "Deletion of ameloblastin exon 6 is associated with amelogenesis imperfecta". Human Molecular Genetics. 23 (20): 5317–24. doi:10.1093/hmg/ddu247. PMC 4168819. PMID 24858907.

Further reading
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