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Article

Deletion of amelotin exons 3-6 is associated with amelogenesis imperfecta.

Human molecular genetics - 15 Aug 2016

Smith Claire E L, Murillo Gina, Brookes Steven J, Poulter James A, Silva Sandra, Kirkham Jennifer, Inglehearn Chris F, Mighell Alan J

Abstract excerpt

Amelogenesis imperfecta (AI) is a heterogeneous group of genetic conditions that result in defective dental enamel formation. Amelotin (AMTN) is a secreted protein thought to act as a promoter of matrix mineralization in the final stage of enamel development, and is strongly expressed, almost exclusively, in maturation stage ameloblasts. Amtn overexpression and Amtn knockout mouse models have defective enamel...

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Source

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Identifiers

PMID: 27412008
DOI: 10.1093/hmg/ddw203
PMCID: PMC5179951

Genes

AMTN

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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