2024年12月24日 · AMELX (Amelogenin X-Linked) is a Protein Coding gene. Diseases associated with AMELX include Amelogenesis Imperfecta, Type Ie and Amelogenesis Imperfecta. Among its related pathways are Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) and Metabolism of proteins.

The AMELX gene encodes for the structural modeling protein, amelogenin, which works with other amelogenesis-related proteins to direct the mineralisation of enamel. This process involves the organization of enamel rods , the basic unit of tooth enamel, as well as the inclusion and growth of hydroxyapatite crystals.

The AMELX gene provides instructions for making a protein called amelogenin, which is essential for normal tooth development. Amelogenin is involved in the formation of enamel, which is the hard, white material that forms the protective outer layer of each tooth. Enamel is composed mainly of mineral crystals.

2025年1月4日 · Title: DNA sequencing reveals AMELX, ODAM and MMP20 variations in dental fluorosis. High AMEL expression is associated with Aggressiveness in Odontogenic Tumors. Title: Amelogenin is a Potential Biomarker for the Aggressiveness in Odontogenic Tumors.

该基因编码细胞外基质蛋白牙釉蛋白家族的成员。 牙釉质蛋白参与牙釉质发育过程中的生物矿化。 该基因的突变会导致 X 连锁釉质发育不全症。 可变剪接导致编码不同异构体的多个转录变体。 [RefSeq 提供，2008 年 7 月] 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.

Mutations in the gene AMELX, encoding an extracellular matrix protein secreted by ameloblasts during enamel formation, were first identified as a cause of AI in 1991. Since then, mutations in at least eighteen genes have been shown to cause AI presenting in isolation of other health problems, with many more implicated in syndromic AI.

2023年11月16日 · 引言 AMELX蛋白（Amelogenin X-linked）是一种在牙釉质中发挥重要作用的蛋白质。它是牙齿硬组织中的主要成分之一，对于牙釉质的形成和功能至关重要。 它是牙齿硬组织中的主要成分之一，对于牙釉质的形成和功能至关重要。

2024年6月1日 · AMELX mutations cause X-linked amelogenesis imperfecta (AI), known as AI types IE, IIB, and IIC in Witkop's classification, characterized by hypoplastic (reduced thickness) and/or hypomaturation (reduced hardness) enamel defects. In this study, we conducted whole exome analyses to unravel the disease-causing mutations for six AI families.

Identification of a nonsense mutation in the amelogenin gene (AMELX) in a family with X-linked amelogenesis imperfecta (AIH1). Human developing enamel proteins exhibit a sex-linked dimorphism. Development and physical analysis of YAC contigs covering 7 Mb of Xp22.3-p22.2.

2025年2月8日 · High AMEL expression is associated with Aggressiveness in Odontogenic Tumors. Single nucleotide polymorphisms in the AMELX and AMBN genes may be genetic variants that contribute to developmental defects of enamel in primary dentition of Polish children.