AMELX

Amelogenin, X isoform is a protein that in humans is encoded by the AMELX gene.^[5] AMELX is located on the X chromosome and encodes a set of isoforms of amelogenin by alternative splicing.^[6][7] Amelogenin is an extracellular matrix protein involved in the process of amelogenesis, the formation of enamel on teeth.

AMELX
Identifiers
Aliases	AMELX, AI1E, AIH1, ALGN, AMG, AMGL, AMGX, amelogenin, X-linked, amelogenin X-linked, Amelogenin, X isoform
External IDs	OMIM: 300391; MGI: 88005; HomoloGene: 36056; GeneCards: AMELX; OMA:AMELX - orthologs
Gene location (Human) Chr. X chromosome (human)[1] Band Xp22.2 Start 11,293,413 bp[1] End 11,300,761 bp[1]
Gene location (Mouse) Chr. X chromosome (mouse)[2] Band X F5|X 78.95 cM Start 167,959,110 bp[2] End 167,970,196 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in testicle epithelium of colon Achilles tendon optic nerve mucosa of ileum deltoid muscle lower lobe of lung tibialis anterior muscle Temporal Lobe Amygdala Top expressed in molar embryo mandibular molars nucleus pulposus sexually immature organism temporal muscle ascending aorta aortic valve olfactory epithelium tibiofemoral joint More reference expression data BioGPS n/a
Gene ontology Molecular function structural constituent of tooth enamel protein binding hydroxyapatite binding identical protein binding growth factor activity Cellular component extracellular region cell surface endoplasmic reticulum lumen extracellular matrix collagen-containing extracellular matrix cytoplasm Golgi apparatus endocytic vesicle Biological process positive regulation of collagen biosynthetic process chondrocyte differentiation biomineral tissue development multicellular organism development odontogenesis of dentin-containing tooth cell adhesion tooth mineralization osteoblast differentiation epithelial to mesenchymal transition enamel mineralization signal transduction positive regulation of tooth mineralization regulation of cell population proliferation post-translational protein modification regulation of signaling receptor activity response to nutrient response to calcium ion Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 265 11704 Ensembl ENSG00000125363 ENSMUSG00000031354 UniProt Q99217 P63277 RefSeq (mRNA) NM_001142 NM_182680 NM_182681 NM_001081978 NM_009666 NM_001290371 RefSeq (protein) NP_001133 NP_872621 NP_872622 NP_001075447 NP_001277300 NP_033796 Location (UCSC) Chr X: 11.29 – 11.3 Mb Chr X: 167.96 – 167.97 Mb PubMed search [3] [4]
Wikidata
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Function

AMELX is involved in biomineralization during tooth enamel development.^[8] 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

Mutations in AMELX result in amelogenesis imperfecta.^[9] It has been shown that mice with a knocked-out AMELX gene will present disorganized and hypoplastic enamel.^[10]

See also

• AMELY