ALX1

Chr 12q21.31

ALX homeobox 1

MANE:: ENST00000316824.4

OMIM: 601527 ↗NCBI: 8092 ↗Ensembl ↗

Annotations refreshed 10 hours ago.

Predicted protein structure

AlphaFold predicted structure

ALX1 · Q15699

v62025-08-01

Predicted Aligned Error matrix for ALX1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

60.3/ 100

Low

326 residues

Confidence breakdown

Very high(≥ 90)18%
Confident(70–90)7%
Low(50–70)34%
Very low(< 50)41%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Clefting
BIALLELIC, autosomal or pseudoautosomal
DDG2P
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomal
Structural eye disease
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
Rare syndromic craniosynostosis or isolated multisuture synostosis

Disease associations (Open Targets)

frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome
0.77
Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome
0.71
frontorhiny
0.39
frontonasal dysplasia
0.37
hair color
0.35
facial morphology
0.30
bone remodeling disease
0.28
cardiomyopathy
0.25
urolithiasis
0.23
alcohol drinking
0.23

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

Protein function (UniProt)

ALX homeobox protein 1

Sequence-specific DNA-binding transcription factor that binds palindromic sequences within promoters and may activate or repress the transcription of a subset of genes (PubMed:8756334, PubMed:9753625). Most probably regulates the expression of genes involved in the development of mesenchyme-derived craniofacial structures. Early on in development, it plays a role in forebrain mesenchyme survival (PubMed:20451171). May also induce epithelial to mesenchymal transition (EMT) through the expression of SNAI1 (PubMed:23288509)