ENAM

Chr 4q13.3

enamelin

MANE:: ENST00000396073.4

OMIM: 606585 ↗NCBI: 10117 ↗Ensembl ↗

Annotations refreshed 10 hours ago.

Predicted protein structure

AlphaFold predicted structure

ENAM · Q9NRM1

v62025-08-01

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

Mean pLDDT

36.7/ 100

Very low

1,142 residues

Confidence breakdown

Very high(≥ 90)0%
Confident(70–90)1%
Low(50–70)3%
Very low(< 50)97%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Amelogenesis imperfecta
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Disease associations (Open Targets)

Hypoplastic amelogenesis imperfecta
0.71
amelogenesis imperfecta
0.57
hereditary disease
0.42
Hypomaturation amelogenesis imperfecta
0.11
amelogenesis imperfecta hypomaturation type 2A4
0.10
amelogenesis imperfecta, IIa 1K
0.10
amelogenesis imperfecta type 3B
0.10
amelogenesis imperfecta, type 3A
0.10
dentinogenesis imperfecta type 3
0.10
amelogenesis imperfecta, type 1J
0.10

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

Protein function (UniProt)

Enamelin

Involved in the mineralization and structural organization of enamel. Involved in the extension of enamel during the secretory stage of dental enamel formation