Sequence of this protein is as follows: PVIPQQPMMP VPGQHSMTPI QHHQPNLPPP AQQPYQPQPV QPQPHQPMQP QPPVHPMQPL PPQPPLPPMF PMQPLPPMLP DLTLEAWPST DKTKREEVD
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.
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Protein Aliases: amelogenesis imperfecta 1; amelogenin (amelogenesis imperfecta 1, X-linked); amelogenin (X chromosome, amelogenesis imperfecta 1); Amelogenin, X isoform
Gene Aliases: AI1E; AIH1; ALGN; AMELX; AMG; AMGL; AMGX
UniProt ID: (Human) Q99217
Entrez Gene ID: (Human) 265