AMELX

Chr Xp22.2

amelogenin X-linked

MANE:: ENST00000380714.7

OMIM: 300391 ↗NCBI: 265 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

AMELX · Q99217

v62025-08-01

Predicted Aligned Error matrix for AMELX — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

59.6/ 100

Low

191 residues

Confidence breakdown

Very high(≥ 90)0%
Confident(70–90)24%
Low(50–70)53%
Very low(< 50)23%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Amelogenesis imperfecta
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Disease associations (Open Targets)

Hypomaturation amelogenesis imperfecta
0.75
amelogenesis imperfecta
0.64
Hypoplastic amelogenesis imperfecta
0.40
hereditary disease
0.19
vein disorder
0.17
lymphatic system disorder
0.17
amelogenesis imperfecta, IIa 1K
0.11
amelogenesis imperfecta hypomaturation type 2A4
0.11
amelogenesis imperfecta type 3B
0.11
amelogenesis imperfecta, type 3A
0.10

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Amelogenin, X isoform

Plays a role in biomineralization. Seems to regulate the formation of crystallites during the secretory stage of tooth enamel development. Thought to play a major role in the structural organization and mineralization of developing enamel