Genes and related proteins involved in amelogenesis imperfecta.

Abstract:

:Dental enamel formation is a remarkable example of a biomineralization process. The exact mechanisms involved in this process remain partly obscure. Some of the genes encoding specific enamel proteins have been indicated as candidate genes for amelogenesis imperfecta. Mutational analyses within studied families have supported this hypothesis. Mutations in the amelogenin gene (AMELX) cause X-linked amelogenesis imperfecta, while mutations in the enamelin gene (ENAM) cause autosomal-inherited forms of amelogenesis imperfecta. Recent reports involve kallikrein-4 (KLK4), MMP-20, and DLX3 genes in the etiologies of some cases. This paper focuses mainly on the candidate genes involved in amelogenesis imperfecta and the proteins derived from them, and reviews current knowledge on their structure, localization within the tissue, and correlation with the various types of this disorder.

journal_name

J Dent Res

authors

Stephanopoulos G,Garefalaki ME,Lyroudia K

doi

10.1177/154405910508401206

keywords:

subject

Has Abstract

pub_date

2005-12-01 00:00:00

pages

1117-26

issue

12

eissn

0022-0345

issn

1544-0591

pii

84/12/1117

journal_volume

84

pub_type

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