LDHD

Chr 16q23.1

lactate dehydrogenase D

MANE:: ENST00000450168.3

OMIM: 607490 ↗NCBI: 197257 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

LDHD · Q86WU2

v62025-08-01

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

Mean pLDDT

89.8/ 100

Confident

507 residues

Confidence breakdown

Very high(≥ 90)86%
Confident(70–90)4%
Low(50–70)2%
Very low(< 50)9%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

lactic aciduria due to D-lactic acid
0.68
Abnormal circulating lactate dehydrogenase concentration
0.14
hepatocellular carcinoma
0.08
esophageal squamous cell carcinoma
0.08
cardiovascular disorder
0.07
uterine corpus sarcoma
0.05
neoplasm
0.05
cancer
0.05
nonpapillary renal cell carcinoma
0.04
clear cell renal carcinoma
0.03

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

Protein function (UniProt)

D-lactate dehydrogenase, mitochondrial

The mitochondrial D-lactate dehydrogenase is a stereoselective dehydrogenase that targets a wide variety of D-2-hydroxyacids, particularly those with small to moderately sized hydrophobic groups attached to the C2 atom. It includes D-lactate which is generated in small amounts either endogenously through the methylglyoxal metabolism pathway or exogenously via intestinal bacterial activity and dietary intake. The dehydrogenase acts specifically on D-lactate, not on its stereoisomer L-lactate, and prevents the toxic accumulation of D-lactate in the organism (PubMed:30931947, PubMed:38373542). By converting branched-chain D-2-hydroxyacids into branched-chain ketoacids, it may indirectly regulate branched-chain amino acid metabolism (By similarity)