ALDH1A3

Chr 15q26.3

aldehyde dehydrogenase 1 family member A3

Aliases:: RALDH3
MANE:: ENST00000329841.10

OMIM: 600463 ↗NCBI: 220 ↗Ensembl ↗

Annotations refreshed 10 hours ago.

Predicted protein structure

AlphaFold predicted structure

ALDH1A3 · P47895

v62025-08-01

Predicted Aligned Error matrix for ALDH1A3 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

95.6/ 100

Very high

512 residues

Confidence breakdown

Very high(≥ 90)93%
Confident(70–90)3%
Low(50–70)1%
Very low(< 50)3%

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
Ocular coloboma
BIALLELIC, autosomal or pseudoautosomal
Structural eye disease
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

Isolated anophthalmia - microphthalmia
0.79
microphthalmia
0.65
anophthalmia-microphthalmia syndrome
0.55
isolated anophthalmia-microphthalmia syndrome
0.55
nanophthalmia
0.39
microphthalmia, isolated, with coloboma
0.38
amyotrophic lateral sclerosis
0.31
nutritional deficiency disease
0.31
autism
0.26
Hypoventilation
0.23

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

Protein function (UniProt)

Retinaldehyde dehydrogenase 3

Catalyzes the NAD-dependent oxidation of aldehyde substrates, such as all-trans-retinal and all-trans-13,14-dihydroretinal, to their corresponding carboxylic acids, all-trans-retinoate and all-trans-13,14-dihydroretinoate, respectively (By similarity) (PubMed:27759097). High specificity for all-trans-retinal as substrate, can also accept acetaldehyde as substrate in vitro but with lower affinity (PubMed:27759097). Required for the biosynthesis of normal levels of retinoate in the embryonic ocular and nasal regions; a critical lipid in the embryonic development of the eye and the nasal region (By similarity)