Protein Name amelogenin X-linked
Organism Homo sapiens
Gene ID 265
Gene Symbol

AMELX

UniProt Q99217 (AMELX_HUMAN)
Relationships Total Number of functionally related compound(s) : 114
Total Number of Articles : 73
Description

amelogenin X-linked

Gene Summary

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]

synonyms
  • amelogenin, X isoform
  • amelogenin (X chromosome, amelogenesis imperfecta 1)
  • amelogenin (amelogenesis imperfecta 1, X-linked)
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Properties