AMELX

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AMELX
Identifiers
Aliases AMELX, AI1E, AIH1, ALGN, AMG, AMGL, AMGX, amelogenin, X-linked
External IDs OMIM: 300391 HomoloGene: 36056 GeneCards: AMELX
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
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 Mb n/a
PubMed search [1] n/a
Wikidata
View/Edit Human

Amelogenin, X isoform is a protein that in humans is encoded by the AMELX (amelogenin, X isoform) gene.[2]

The protein Amelogenin, X isoform is an isoform of amelogenin that comes from the X chromosome.[3][4] The protein Amelogenin is a type of extracellular matrix protein, and is involved in the progcess of amelogenesis, the formation of enamel on teeth. Amelogenin X is a member of the amelogenin family of extracellular matrix proteins. When alternative splicing occurs, it results in multiple transcript variants encoding different isoforms, which in humans results in amelogenin genes on both the X and Y chromosomes.[3][4]

Function[edit]

AMELX is involved in biomineralization during tooth enamel development.[5] 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[edit]

Mutations in the AMELX gene can result in amelogenesis imperfecta, which refers to the collection of enamel defects resulting from either genetic or environmental causes.[6] It has been shown that mice with a knocked-out AMELX gene will present disorganized and hypoplastic enamel.[7]

See also[edit]

References[edit]

  1. ^ "Human PubMed Reference:". 
  2. ^ "Entrez Gene: amelogenin (amelogenesis imperfecta 1". 
  3. ^ a b "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. 
  4. ^ a b 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 1682460Freely accessible. PMID 1734713. 
  5. ^ 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. 
  6. ^ 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 1847600Freely accessible. PMID 16838342. 
  7. ^ 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. PMID 18390542. 

External links[edit]

Further reading[edit]