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Amelogenin, X-linked
External IDs OMIM300391 MGI88005 HomoloGene36056 GeneCards: AMELX Gene
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 gene.[1]

Amelogenin, X isoform is a form of amelogenin found on the X chromosome.[2][3] 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.


AMELX is involved in biomineralization during tooth enamel development.[4]

Clinical significance[edit]

Mutations in the AMELX gene can cause amelogenesis imperfecta, a disorder of tooth enamel development.[5]

See also[edit]


  1. ^ "Entrez Gene: amelogenin (amelogenesis imperfecta 1". 
  2. ^ "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. ^ Salido EC, Yen PH, Koprivnikar K, Yu LC, Shapiro LJ (February 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, Sreenath T, Wright JT, Decker S, Piddington R, Harrison G, Kulkarni AB (August 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 (December 2006). "The Molecular Etiologies and Associated Phenotypes of Amelogenesis Imperfecta". American Journal of Medical Genetics 140 (23): 2547–55. doi:10.1002/ajmg.a.31358. PMC 1847600. PMID 16838342. 

Further reading[edit]