VAX1

Chr 10q25.3

ventral anterior homeobox 1

MANE:: ENST00000369206.6

OMIM: 604294 ↗NCBI: 11023 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

VAX1 · Q5SQQ9

v62025-08-01

Predicted Aligned Error matrix for VAX1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

63.5/ 100

Low

334 residues

Confidence breakdown

Very high(≥ 90)20%
Confident(70–90)13%
Low(50–70)30%
Very low(< 50)37%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

Structural eye disease
BIALLELIC, autosomal or pseudoautosomal
Anophthalmia or microphthalmia
Clefting
BIALLELIC, autosomal or pseudoautosomal
Glaucoma (developmental)
Retinal disorders

Disease associations (Open Targets)

microphthalmia
0.51
substance-related disorder
0.34
cleft lip
0.33
ventricular septal defect
0.31
placental abruption
0.28
cleft palate
0.25
mathematical ability
0.21
orofacial cleft
0.20
obesity disorder
0.14
microphthalmia, isolated, with coloboma
0.09

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

Protein function (UniProt)

Ventral anterior homeobox 1

Transcription factor that may function in dorsoventral specification of the forebrain. Required for axon guidance and major tract formation in the developing forebrain. May contribute to the differentiation of the neuroretina, pigmented epithelium and optic stalk (By similarity)