RAX

Chr 18q21.32

retina and anterior neural fold homeobox

Aliases:: RX, RAX1
MANE:: ENST00000334889.4

OMIM: 601881 ↗NCBI: 30062 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

RAX · Q9Y2V3

v62025-08-01

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

Mean pLDDT

63.4/ 100

Low

346 residues

Confidence breakdown

Very high(≥ 90)17%
Confident(70–90)13%
Low(50–70)43%
Very low(< 50)28%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Anophthalmia or microphthalmia
BIALLELIC, autosomal or pseudoautosomal
DDG2P
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Structural eye disease
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
Pituitary hormone deficiency
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

Isolated anophthalmia - microphthalmia
0.79
retinal disorder
0.41
microphthalmia
0.39
nanophthalmia
0.39
microphthalmia, isolated, with coloboma
0.39
isolated microphthalmia
0.37
Epiretinal membrane
0.36
response to COVID-19 vaccine
0.29
arthropathy
0.29
hereditary disease
0.19

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

Protein function (UniProt)

Retinal homeobox protein Rx

Plays a critical role in eye formation by regulating the initial specification of retinal cells and/or their subsequent proliferation. Binds to the photoreceptor conserved element-I (PCE-1/Ret 1) in the photoreceptor cell-specific arrestin promoter