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GeneE
2 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
LDHAL6A
lactate dehydrogenase A like 6A
Chromosome 11 Β· 11p15.1
NCBI Gene: 160287Ensembl: ENSG00000166800.11HGNC: HGNC:28335UniProt: Q6ZMR3
21PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
cytoplasmextracellular exosomeL-lactate dehydrogenase (NAD+) activitypyruvate catabolic processdeafnessautosomal recessive nonsyndromic hearing loss 9autosomal dominant nonsyndromic hearing lossbenign adult familial myoclonic epilepsy
✦AI Summary

Based on limited published evidence, LDHAL6A encodes a lactate dehydrogenase-like protein that catalyzes the interconversion of L-lactate and pyruvate using NAD+ as a coenzyme 1. The protein localizes to the cytoplasm and mitochondria, and significantly increases JUN transcriptional activity when overexpressed 1. Recent evidence identifies LDHAL6A as an exosomal effector that promotes malignant programs in recipient cells, with inhibition combined with paclitaxel suppressing triple-negative breast cancer growth and metastasis 2. The gene participates in lactate and pyruvate metabolism.

Sources cited
1
LDHAL6A catalyzes pyruvate-lactate interconversion with NADH/NAD+ cofactor; localizes to cytoplasm; activates AP1/JUN transcriptional activity
PMID: 18351441
2
LDHAL6A is an exosomal effector promoting malignant programs; inhibition with paclitaxel suppresses triple-negative breast cancer growth and metastasis
PMID: 41330386
⚠Limited data available β€” This gene has 2 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜20
deafnessOpen Targets
0.06Suggestive
autosomal recessive nonsyndromic hearing loss 9Open Targets
0.05Suggestive
autosomal dominant nonsyndromic hearing lossOpen Targets
0.05Suggestive
benign adult familial myoclonic epilepsyOpen Targets
0.04Suggestive
hearing loss, autosomal recessiveOpen Targets
0.04Suggestive
glomerulonephritisOpen Targets
0.03Suggestive
spondylolisthesisOpen Targets
0.02Suggestive
cancerOpen Targets
0.00Suggestive
ulcerative colitisOpen Targets
0.00Suggestive
atrial fibrillationOpen Targets
0.00Suggestive
nonpapillary renal cell carcinomaOpen Targets
0.00Suggestive
posterior cortical atrophyOpen Targets
0.00Suggestive
triple-negative breast cancerOpen Targets
0.00Suggestive
brain gliomaOpen Targets
0.00Suggestive
gliomaOpen Targets
0.00Suggestive
type 2 diabetes mellitusOpen Targets
0.00Suggestive
clear cell renal carcinomaOpen Targets
0.00Suggestive
colorectal adenocarcinomaOpen Targets
0.00Suggestive
gastric cancerOpen Targets
0.00Suggestive
Uveal MelanomaOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar β†—
Related Genes
LDHAL6BShared pathway100%GAPDHProtein interaction100%FHProtein interaction98%CSProtein interaction97%GOT1Protein interaction97%GOT2Protein interaction97%
Tissue Expression6 tissues
Bone Marrow
100%
Ovary
81%
Brain
67%
Lung
25%
Liver
19%
Heart
0%
Gene Interaction Network
Click a node to explore
LDHAL6ALDHAL6BGAPDHFHCSGOT1GOT2
PROTEIN STRUCTURE
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AlphaFoldAI-predicted Β· UniProt Q6ZMR3
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.97LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.64 [0.43–0.97]
RankingsWhere LDHAL6A stands among ~20K protein-coding genes
  • #13,943of 20,598
    Most Researched21
  • #9,285of 17,882
    Most Constrained (LOEUF)0.97
Genes detectedLDHAL6A
Sources retrieved2 papers
Response timeβ€”
πŸ“„ Sources
2
1
In vivo proteomic labeling reveals diverse proteomes for therapeutic targets.
PMID: 41330386
Mol Cell Β· 2025
1.00
2
Identification of a novel human lactate dehydrogenase gene LDHAL6A, which activates transcriptional activities of AP1(PMA).
PMID: 18351441
Mol Biol Rep Β· 2009
0.50