GENE REFERENCE / HGNC:461

AMELX

amelogenin X-linked

protein-coding geneXp22.2Gene information

What does this gene do?

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 tooth enamel, which is the hard, white material that forms the protective outer layer of each tooth. Enamel is composed mainly of mineral crystals. These microscopic crystals are organized in a way to give enamel strength and durability. Amelogenin acts as a scaffold to separate and support the crystals as they grow. Amelogenin is removed from the developing crystals when it is no longer needed, leaving mature enamel that contains very little protein.

The AMELX gene is located on the X chromosome. Males have a single copy of the X chromosome, and thus a single copy of the AMELX gene, in each cell. Females have two copies of the X chromosome, and thus two copies of the AMELX gene, in each cell. However, in females, the X chromosome undergoes a process called X-inactivation. Early in female embryonic development, one of the two X chromosomes is randomly and permanently inactivated in cells other than egg cells. X-inactivation ensures that females, like males, have only one active copy of the X chromosome in each body cell. Because of this, females also only have one active copy of the AMELX gene in each body cell.

Source: MedlinePlus, National Library of Medicine. Source publication: 2025-12-03. Source review: 2025-12.

ClinGen reviews

We found no matching ClinGen review in the data used here. This does not rule out a link between the gene and a condition.

ClinVar records

These numbers show what has been submitted to ClinVar. They cannot tell you how likely you are to have a condition.

Submitted alleles: 261
Submissions for variants in or overlapping this gene: 281
Submissions explicitly reporting this gene: 86
Alleles reported pathogenic / likely pathogenic: 23
VariationIDs with uncertain significance: 31
VariationIDs with conflicting classifications: 0

The rows count different things: alleles, submissions or VariationIDs. Their categories can overlap, so do not add them together. Pathogenic/likely pathogenic counts exclude structural variants that merely overlap a gene. A dash in the source means “not reported,” not zero.

NCBI produces the gene-summary file each week using counts recorded at the start of the month. The numbers may differ from those on the live ClinVar website. Read the field definitions ↗

View this gene in ClinVar ↗

YOUR DNA FILE

Can your DNA file tell you about AMELX?

From a DNA test kit (such as 23andMe, AncestryDNA or MyHeritage). These kits check a fixed list of about 600,000 to 700,000 positions across your whole genome. ClinVar lists 23 alleles in AMELX reported as pathogenic or likely pathogenic. A kit checks only some of these positions, and often none of them.

From whole genome sequencing (a VCF file). Sequencing reads most of your genome. Your file lists the places where your DNA differs from the reference genome. Some regions are hard to sequence, including parts of some genes that have near-identical copies elsewhere, and a VCF file does not record which positions were read well.

If a variant is not in your file, that does not mean you don’t have it.

What BioDecode checks

BioDecode compares every variant in your file with ClinVar, on your own computer. For each match, it shows the ClinVar classification, the review status and the condition it was reported for. Your file is not uploaded.

A ClinVar classification applies to one particular variant and the condition it was reported for. It does not tell you about other variants in AMELX.

BioDecode cannot fill gaps in your test, diagnose a condition or replace clinical testing.

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