AMELX

From Wikipedia, the free encyclopedia
Jump to: navigation, search
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 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.

Function[edit]

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]

References[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]