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AMELX

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AMELX
Identifikatori
AliasiAMELX
Vanjski ID-jeviOMIM: 300391 MGI: 88005 HomoloGene: 36056 GeneCards: AMELX
Lokacija gena (čovjek)
Hromosom X
Hrom.Hromosom X[1]
Hromosom X
Genomska lokacija za AMELX
Genomska lokacija za AMELX
BendXp22.2Početak11,293,413 bp[1]
Kraj11,300,761 bp[1]
Lokacija gena (miš)
Hromosom X (miš)
Hrom.Hromosom X (miš)[2]
Hromosom X (miš)
Genomska lokacija za AMELX
Genomska lokacija za AMELX
BendX F5|X 78.95 cMPočetak167,959,110 bp[2]
Kraj167,970,196 bp[2]
Ontologija gena
Molekularna funkcija structural constituent of tooth enamel
GO:0001948, GO:0016582 vezivanje za proteine
hydroxyapatite binding
vezivanje identičnih proteina
growth factor activity
Ćelijska komponenta extracellular region
cell surface
endoplasmic reticulum lumen
GO:0005578 Vanćelijski matriks
collagen-containing extracellular matrix
citoplazma
Golđijev aparat
endocytic vesicle
Biološki proces positive regulation of collagen biosynthetic process
chondrocyte differentiation
biomineral tissue development
multicellular organism development
odontogenesis of dentin-containing tooth
Ćelijska adhezija
tooth mineralization
osteoblast differentiation
epithelial to mesenchymal transition
enamel mineralization
GO:0072468 Transdukcija signala
positive regulation of tooth mineralization
regulation of cell population proliferation
Posttranslacione modifikacije
regulation of signaling receptor activity
response to nutrient
response to calcium ion
Izvori:Amigo / QuickGO
Ortolozi
VrsteČovjekMiš
Entrez
Ensembl
UniProt
RefSeq (mRNK)

NM_001142
NM_182680
NM_182681

NM_001081978
NM_009666
NM_001290371

RefSeq (bjelančevina)

NP_001133
NP_872621
NP_872622

NP_001075447
NP_001277300
NP_033796

Lokacija (UCSC)Chr X: 11.29 – 11.3 MbChr X: 167.96 – 167.97 Mb
PubMed pretraga[3][4]
Wikipodaci
Pogledaj/uredi – čovjekPogledaj/uredi – miš

X-izoforma amelogeninina je protein koji je kod ćovjeka kodiran genom AMELX.[5] AMELX se nalazi na hromosomu X i kodira skup izoformi amelogenina pomoću alternativne prerade RNK.[6][7] Amelogenin je protein vanćelijskog matriksa, uključen u proces amelogeneze, formiranja cakline na zubima.

Funkcija[uredi | uredi izvor]

AMELX je uključen u biomineralizaciju tokom razvoja zubne cakline.[8] Gen AMELX kodira protein strukturnog modeliranja, amelogenin, koji djeluje sa ostalim proteinima povezanim s amelogenezom, kako bi usmjerio mineralizaciju cakline. Ovaj proces uključuje organizaciju caklinskih štapiča, osnovne jedinice zubne cakline, kao i uključivanje i rast kristala hidroksiapatita.

Klinički značaj[uredi | uredi izvor]

Mutacije u AMELX rezultiraju bolešću zvanom amelogenesis imperfecta.[9] Pokazano je da miševi sa nokaut AMELX-om eksprimiraju neorganiziranu i hipoplazijsku caklinu.[10]

Također pogledajte[uredi | uredi izvor]

Reference[uredi | uredi izvor]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000125363 - Ensembl, maj 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000031354 - Ensembl, maj 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ "Entrez Gene: amelogenin (amelogenesis imperfecta 1".
  6. ^ "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.
  7. ^ 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.
  8. ^ 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.
  9. ^ 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.
  10. ^ Li Y, Suggs C, Wright JT, Yuan ZA, Aragon M, Fong H, Simmons D, Daly B, Golub EE, Harrison G, Kulkarni AB, Gibson CW (maj 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.

Vanjsk linkovi[uredi | uredi izvor]

Dopunska literatura[uredi | uredi izvor]