Q99217.1
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
23,111 Da
NCBI Official Full Name
Amelogenin, X isoform
NCBI Official Synonym Full Names
amelogenin, X-linked
NCBI Official Synonym Symbols
AMG; AI1E; AIH1; ALGN; AMGL; AMGX [Similar Products]
NCBI Protein Information
amelogenin, X isoform
UniProt Protein Name
Amelogenin, X isoform
UniProt Synonym Gene Names
UniProt Entry Name
AMELX_HUMAN
NCBI Summary for AMELX
This gene encodes a member of the amelogenin family of extracellular matrix proteins. Amelogenins are involved in biomineralization during tooth enamel development. Mutations in this gene cause X-linked amelogenesis imperfecta. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
UniProt Comments for AMELX
AMELX: Plays a role in biomineralization. Seems to regulate the formation of crystallites during the secretory stage of tooth enamel development. Thought to play a major role in the structural organization and mineralization of developing enamel. Defects in AMELX are the cause of amelogenesis imperfecta type 1E (AI1E). A X-linked defect of dental enamel formation. Teeth have only a thin layer of enamel with normal hardness. The thinness of the enamel makes the teeth appear small. Belongs to the amelogenin family. 3 isoforms of the human protein are produced by alternative splicing.
Protein type: Secreted; Secreted, signal peptide
Chromosomal Location of Human Ortholog: Xp22.31-p22.1
Cellular Component: cell surface; proteinaceous extracellular matrix
Molecular Function: growth factor activity; hydroxyapatite binding; identical protein binding; protein binding; structural constituent of tooth enamel
Biological Process: biomineral formation; cell adhesion; cell proliferation; chondrocyte differentiation; epithelial to mesenchymal transition; ion homeostasis; odontogenesis of dentine-containing teeth; osteoblast differentiation; positive regulation of collagen biosynthetic process; signal transduction
Disease: Amelogenesis Imperfecta, Type Ie
Research Articles on AMELX
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Diseases associated with AMELX blocking peptide
Organs/Tissues associated with AMELX blocking peptide
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