AMELX

Amelogenin, X isoform is a protein that in humans is encoded by the AMELX gene.[3] AMELX is located on the X chromosome and encodes a set of isoforms of amelogenin by alternative splicing.[4][5] Amelogenin is an extracellular matrix protein involved in the process of amelogenesis, the formation of enamel on teeth.

AMELX
Identifiers
AliasesAMELX, AI1E, AIH1, ALGN, AMG, AMGL, AMGX, amelogenin, X-linked, amelogenin X-linked
External IDsOMIM: 300391 HomoloGene: 36056 GeneCards: AMELX
Gene location (Human)
Chr.X chromosome (human)[1]
BandXp22.2Start11,293,413 bp[1]
End11,300,761 bp[1]
Orthologs
SpeciesHumanMouse
Entrez

265

n/a

Ensembl

ENSG00000125363

n/a

UniProt

Q99217

n/a

RefSeq (mRNA)

NM_001142
NM_182680
NM_182681

n/a

RefSeq (protein)

NP_001133
NP_872621
NP_872622

n/a

Location (UCSC)Chr X: 11.29 – 11.3 Mbn/a
PubMed search[2]n/a
Wikidata
View/Edit Human

Function

AMELX is involved in biomineralization during tooth enamel development.[6] The AMELX gene encodes for the structural modeling protein, amelogenin, which works with other amelogenesis-related proteins to direct the mineralisation of enamel. This process involves the organization of enamel rods, the basic unit of tooth enamel, as well as the inclusion and growth of hydroxyapatite crystals.

Clinical significance

Mutations in AMELX result in amelogenesis imperfecta.[7] It has been shown that mice with a knocked-out AMELX gene will present disorganized and hypoplastic enamel.[8]

See also

References

  1. GRCh38: Ensembl release 89: ENSG00000125363 - Ensembl, May 2017
  2. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  3. "Entrez Gene: amelogenin (amelogenesis imperfecta 1".
  4. "AceView: Gene:AMELX, a comprehensive annotation of human, mouse and worm genes with mRNAs or ESTsAceView". National Center for Biotechnology Information, United States National Institutes of Health.
  5. Salido EC, Yen PH, Koprivnikar K, Yu LC, Shapiro LJ (Feb 1992). "The human enamel protein gene amelogenin is expressed from both the X and the Y chromosomes". American Journal of Human Genetics. 50 (2): 303–16. PMC 1682460. PMID 1734713.
  6. Gibson CW, Yuan ZA, Hall B, Longenecker G, Chen E, Thyagarajan T, Sreenath T, Wright JT, Decker S, Piddington R, Harrison G, Kulkarni AB (Aug 2001). "Amelogenin-deficient mice display an amelogenesis imperfecta phenotype". The Journal of Biological Chemistry. 276 (34): 31871–5. doi:10.1074/jbc.M104624200. PMID 11406633.
  7. Wright JT (Dec 2006). "The molecular etiologies and associated phenotypes of amelogenesis imperfecta". American Journal of Medical Genetics Part A. 140 (23): 2547–55. doi:10.1002/ajmg.a.31358. PMC 1847600. PMID 16838342.
  8. Li Y, Suggs C, Wright JT, Yuan ZA, Aragon M, Fong H, Simmons D, Daly B, Golub EE, Harrison G, Kulkarni AB, Gibson CW (May 2008). "Partial rescue of the amelogenin null dental enamel phenotype". The Journal of Biological Chemistry. 283 (22): 15056–15062. doi:10.1074/jbc.M707992200. PMC 2397487. PMID 18390542.

Further reading



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