ALDH6A1

Chr 14q24.3

aldehyde dehydrogenase 6 family member A1

MANE:: ENST00000553458.6

OMIM: 603178 ↗NCBI: 4329 ↗Ensembl ↗

Annotations refreshed 10 hours ago.

Predicted protein structure

AlphaFold predicted structure

ALDH6A1 · Q02252

v62025-08-01

Predicted Aligned Error matrix for ALDH6A1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

93.8/ 100

Very high

535 residues

Confidence breakdown

Very high(≥ 90)90%
Confident(70–90)2%
Low(50–70)6%
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)

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

Disease associations (Open Targets)

methylmalonate semialdehyde dehydrogenase deficiency
0.68
Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency
0.55
hereditary disease
0.41
alcohol drinking
0.23
atrial fibrillation
0.16
gastric cancer
0.07
nonpapillary renal cell carcinoma
0.07
clear cell renal carcinoma
0.04
hyperlipidemia
0.04
neoplasm
0.04

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

Protein function (UniProt)

Methylmalonate-semialdehyde/malonate-semialdehyde dehydrogenase [acylating], mitochondrial

Malonate and methylmalonate semialdehyde dehydrogenase involved in the catabolism of valine, thymine, and compounds catabolized by way of beta-alanine, including uracil and cytidine