DLX3

Chr 17q21.33

distal-less homeobox 3

MANE:: ENST00000434704.2

OMIM: 600525 ↗NCBI: 1747 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

DLX3 · O60479

v62025-08-01

Predicted Aligned Error matrix for DLX3 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

60.2/ 100

Low

287 residues

Confidence breakdown

Very high(≥ 90)20%
Confident(70–90)3%
Low(50–70)36%
Very low(< 50)42%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Amelogenesis imperfecta
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism
0.70
tricho-dento-osseous syndrome
0.69
hereditary disease
0.45
amelogenesis imperfecta
0.44
Uterine leiomyoma
0.27
arthropathy
0.26
Peripheral pulmonary artery stenosis
0.26
Joint stiffness
0.11
hypertensive disorder
0.10
neoplasm
0.08

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

Protein function (UniProt)

Homeobox protein DLX-3

Transcriptional activator (By similarity). Activates transcription of GNRHR, via binding to the downstream activin regulatory element (DARE) in the gene promoter (By similarity)