AMTN

Chr 4q13.3

amelotin

Aliases:: UNQ689, RSTI689
MANE:: ENST00000339336.9

OMIM: 610912 ↗NCBI: 401138 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

AMTN · Q6UX39

v62025-08-01

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

Mean pLDDT

48.4/ 100

Very low

209 residues

Confidence breakdown

Very high(≥ 90)0%
Confident(70–90)3%
Low(50–70)34%
Very low(< 50)63%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

Amelogenesis imperfecta
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

hypocalcified amelogenesis imperfecta
0.46
amelogenesis imperfecta type 3B
0.46
neurodegenerative disease
0.27
amelogenesis imperfecta
0.21
amelogenesis imperfecta type 2
0.18
uterine corpus leiomyoma
0.17
amelogenesis imperfecta, type 3A
0.13
male infertility
0.12
Hypomaturation amelogenesis imperfecta
0.10
Hypoplastic amelogenesis imperfecta
0.10

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

Protein function (UniProt)

Amelotin

Is a promoter of calcium phosphate mineralization, playing a critical role in the formation of the compact, mineralized, aprismatic enamel surface layer during the maturation stage of amelogenesis