ALDH4A1

Chr 1p36.13

aldehyde dehydrogenase 4 family member A1

Aliases:: P5CDh
MANE:: ENST00000375341.8

OMIM: 606811 ↗NCBI: 8659 ↗Ensembl ↗

Annotations refreshed 10 hours ago.

Predicted protein structure

AlphaFold predicted structure

ALDH4A1 · P30038

v62025-08-01

Predicted Aligned Error matrix for ALDH4A1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

96.2/ 100

Very high

563 residues

Confidence breakdown

Very high(≥ 90)95%
Confident(70–90)1%
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)

DDG2P
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomal
Undiagnosed metabolic disorders
BIALLELIC, autosomal or pseudoautosomal
Childhood onset dystonia, chorea or related movement disorder
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

hyperprolinemia type 2
0.79
Intellectual disability
0.50
hyperprolinemia
0.37
spermatocele
0.29
Seizure
0.15
alcohol drinking
0.13
MHC class II deficiency
0.12
Immunodeficiency by defective expression of HLA class 2
0.12
urolithiasis
0.12
hypothyroidism
0.07

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

Protein function (UniProt)

Delta-1-pyrroline-5-carboxylate dehydrogenase, mitochondrial

Irreversible conversion of delta-1-pyrroline-5-carboxylate (P5C), derived either from proline or ornithine, to glutamate. This is a necessary step in the pathway interconnecting the urea and tricarboxylic acid cycles. The preferred substrate is glutamic gamma-semialdehyde, other substrates include succinic, glutaric and adipic semialdehydes