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GeneE
1 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.
LDHAL6B
lactate dehydrogenase A like 6B
Chromosome 15 Β· 15q22.2
NCBI Gene: 92483Ensembl: ENSG00000171989.6HGNC: HGNC:21481UniProt: A0A140VJM9
24PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
cytoplasmprotein bindingnucleuslactate metabolic processDupuytren ContracturePalmar Fibromatosismajor depressive disorderdeafness
✦AI Summary

Based on limited published evidence, LDHAL6B encodes a lactate dehydrogenase A-like protein localized to the cytoplasm, nucleus, and mitochondrial matrix. UniProt annotations indicate L-lactate dehydrogenase (NAD+) activity and involvement in lactate metabolic processes, pyruvate catabolism, and pyruvate fermentation to lactate. LDHAL6B associates with protein binding functions. In vivo studies demonstrated that Ldhal6b knockout mice remained fertile, suggesting the gene is not essential for male reproduction when individually ablated 1.

Sources cited
1
Ldhal6b knockout mice showed no impairment of male fertility, indicating the gene is dispensable for testicular function and sperm formation
PMID: 34290169
⚠Limited data available β€” This gene has 1 indexed publication. Summary and analysis may be incomplete.
Disease Associationsβ“˜20
Dupuytren ContractureOpen Targets
0.43Moderate
Palmar FibromatosisOpen Targets
0.32Weak
major depressive disorderOpen Targets
0.08Suggestive
deafnessOpen Targets
0.06Suggestive
anorexia nervosaOpen Targets
0.06Suggestive
attention deficit hyperactivity disorderOpen Targets
0.06Suggestive
type 2 diabetes mellitusOpen Targets
0.06Suggestive
autosomal recessive nonsyndromic hearing loss 9Open Targets
0.05Suggestive
coronary artery calcificationOpen Targets
0.05Suggestive
autosomal dominant nonsyndromic hearing lossOpen Targets
0.05Suggestive
ovarian dysfunctionOpen Targets
0.04Suggestive
pathological myopiaOpen Targets
0.04Suggestive
benign adult familial myoclonic epilepsyOpen Targets
0.04Suggestive
hearing loss, autosomal recessiveOpen Targets
0.04Suggestive
ovarian neoplasmOpen Targets
0.03Suggestive
tooth diseaseOpen Targets
0.03Suggestive
head injuryOpen Targets
0.03Suggestive
glomerulonephritisOpen Targets
0.03Suggestive
diabetic ketoacidosisOpen Targets
0.03Suggestive
liver diseaseOpen Targets
0.02Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar β†—
Related Genes
LDHCShared pathway100%LDHAL6AShared pathway100%CKMT1AProtein interaction100%FHProtein interaction98%CSProtein interaction97%GOT1Protein interaction97%
Tissue Expression6 tissues
Liver
100%
Brain
41%
Lung
38%
Ovary
19%
Heart
0%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
LDHAL6BLDHCLDHAL6ACKMT1AFHCSGOT1
PROTEIN STRUCTURE
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AlphaFoldAI-predicted Β· UniProt Q9BYZ2
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.86LoF Tolerant
pLIβ“˜
0.09Tolerant
Observed/Expected LoF0.92 [0.34–1.86]
RankingsWhere LDHAL6B stands among ~20K protein-coding genes
  • #13,226of 20,598
    Most Researched24
  • #16,916of 17,882
    Most Constrained (LOEUF)1.86
Genes detectedLDHAL6B
Sources retrieved1 papers
Response timeβ€”
πŸ“„ Sources
1
1
CRISPR/Cas9-mediated genome editing reveals 12 testis-enriched genes dispensable for male fertility in mice.
PMID: 34290169
Asian J Androl Β· 2022
1.00