AMELX

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Amelogenin, X-linked
Identifiers
Symbols AMELX ; AI1E; AIH1; ALGN; AMG; AMGL; AMGX
External IDs OMIM300391 MGI88005 HomoloGene36056 GeneCards: AMELX Gene
Orthologs
Species Human Mouse
Entrez 265 11704
Ensembl ENSG00000125363 ENSMUSG00000031354
UniProt Q99217 P63277
RefSeq (mRNA) NM_001142 NM_001081978
RefSeq (protein) NP_001133 NP_001075447
Location (UCSC) Chr X:
11.31 – 11.32 Mb
Chr X:
169.18 – 169.19 Mb
PubMed search [1] [2]

Amelogenin, X isoform is a protein that in humans is encoded by the AMELX (amelogenin, X isoform) gene.[1]

The protein Amelogenin, X isoform is an isoform of amelogenin that comes from the X chromosome.[2][3] 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. [2][3]

Function[edit]

AMELX is involved in biomineralization during tooth enamel development.[4] The AMELX gene encodes for the structural modeling protein, amelogenin, which works with other amelogenesis-related proteins to direct the mineralization 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.[5] It has been shown that mice with a knocked-out AMELX gene will present disorganized and hypoplastic enamel.[6]

See also[edit]

References[edit]

  1. ^ "Entrez Gene: amelogenin (amelogenesis imperfecta 1". 
  2. ^ 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. 
  3. ^ 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 1682460. PMID 1734713. 
  4. ^ Gibson CW, Yuan ZA, Hall B, Longenecker G, Chen E, Thyagarajan T et al. (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. 
  5. ^ 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. 
  6. ^ Li Y, Suggs C, Wright JT, Yuan ZA, Aragon M, Fong H et al. (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. 

Further reading[edit]