amelogenin (amelogenesis imperfecta 1, X-linked)
Identifiers
Symbol	AMELX
Alt. symbols	AMG, AIH1
Entrez	265
HUGO	461
OMIM	300391
RefSeq	NM_001142
UniProt	Q99217
Other data
Locus	Chr. X p22.3-p22.1

Amelogenin X-linked also known as AMELX is a gene which encodes a form of amelogenin found on the X chromosome.^[1][2] Amelogenin X is a member of the amelogenin family of extracellular matrix proteins. When alternative splicing occurs it results in multiple transcript variants encoding different isoforms.

Contents 1 Function 2 Clinical significance 3 References 4 See also

[edit] Function

AMELX is involved in biomineralization during tooth enamel development.^[3]

[edit] Clinical significance

Mutations in the AMELX gene can cause amelogenesis imperfecta, a disorder of tooth enamel development.^[4]

[edit] References

[edit] See also

• Amelogenin
• X chromosome
• AMELY

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