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GeneE
9 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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KLHL8
kelch like family member 8
Chromosome 4 · 4q22.1
NCBI Gene: 57563Ensembl: ENSG00000145332.14HGNC: HGNC:18644UniProt: B3KY78
40PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
ubiquitin-dependent protein catabolic processnucleoplasmCul3-RING ubiquitin ligase complexprotein ubiquitinationgoutovarian neoplasmhypertension, pregnancy-inducedliver cancer
✦AI Summary

KLHL8 (kelch like family member 8) functions as a substrate-specific adapter of the BCR (BTB-CUL3-RBX1) E3 ubiquitin ligase complex. Its primary role involves mediating ubiquitination and proteasomal degradation of target proteins. KLHL8 was initially characterized as essential for ubiquitination of rapsyn, a postsynaptic protein required for nicotinic acetylcholine receptor clustering at the neuromuscular junction 1. More recently, KLHL8 has been identified as a critical regulator of ferroptosis in neuronal contexts. During ischemic stroke, KLHL8-mediated ubiquitination of GPX4 (a ferroptosis inhibitor) promotes its binding to the autophagy receptor TAX1BP1, leading to autophagic-lysosomal degradation and subsequent neuronal ferroptosis 2. Clinical evidence demonstrates that KLHL8 expression is significantly upregulated in ischemic stroke patient brain tissue and correlates with ferroptosis markers 2. KLHL8 also exhibits disease relevance in schizophrenia, where it shows gain-of-function interactions with hyperphosphorylated MAP2, nominating it as a potential therapeutic target 3. Additionally, KLHL8 variants have been associated with hepatocellular carcinoma risk 4, early-onset coronary atherosclerotic disease 5, and NAFLD fibrosis progression with sex/menopause-specific effects 6. These findings suggest KLHL8 represents a potential therapeutic target across multiple diseases involving protein quality control and ferroptosis regulation.

Sources cited
1
KLHL8 mediates ubiquitination of GPX4 and promotes its autophagic degradation via TAX1BP1 during ferroptosis in ischemic stroke; KLHL8 expression is upregulated in stroke patient brains and correlates with ferroptosis scores
PMID: 41478420
2
KLHL8 shows gain-of-function interactions with phosphorylated MAP2 in schizophrenia and is nominated as a potential therapeutic target for the disorder
PMID: 39532265
3
KLHL8 is a substrate adapter of the CUL3-containing E3 ligase complex that mediates rapsyn ubiquitination and degradation at the neuromuscular junction
PMID: 19158078
4
KLHL8 identified as a tertiary therapeutic target gene associated with hepatocellular carcinoma risk through Mendelian randomization analysis
PMID: 41029168
5
KLHL8 variants associated with residual risk of early-onset coronary atherosclerotic disease and correlated with increased neutrophil proportion and decreased monocyte percentage
PMID: 39673281
6
KLHL8 SNP genotypes significantly interact with sex and menopausal status to affect NAFLD fibrosis stage
PMID: 33860118
7
KLHL8 identified as a potential Alzheimer's disease biomarker associated with gray matter volume changes in multiple brain regions
PMID: 34410569
Disease Associationsⓘ20
goutOpen Targets
0.36Weak
ovarian neoplasmOpen Targets
0.32Weak
hypertension, pregnancy-inducedOpen Targets
0.32Weak
liver cancerOpen Targets
0.31Weak
hyperlipidemiaOpen Targets
0.26Weak
metabolic diseaseOpen Targets
0.26Weak
Abruptio PlacentaeOpen Targets
0.26Weak
intrahepatic bile duct cancerOpen Targets
0.25Weak
elevated lactate dehydrogenaseOpen Targets
0.24Weak
metabolic syndromeOpen Targets
0.23Weak
familial lipoprotein lipase deficiencyOpen Targets
0.18Weak
HypercholesterolemiaOpen Targets
0.17Weak
musculoskeletal system diseaseOpen Targets
0.12Weak
catecholaminergic polymorphic ventricular tachycardiaOpen Targets
0.11Weak
Liver abscessOpen Targets
0.10Weak
Disorder of lipid metabolismOpen Targets
0.10Suggestive
frozen shoulderOpen Targets
0.10Suggestive
liver diseaseOpen Targets
0.10Suggestive
dry age related macular degenerationOpen Targets
0.09Suggestive
HeadacheOpen Targets
0.06Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
SPSB1Shared pathway100%RBX1Protein interaction99%KBTBD8Protein interaction92%SPOPLProtein interaction92%KCTD17Protein interaction91%KLHL13Protein interaction91%
Tissue Expression6 tissues
Brain
100%
Heart
46%
Liver
44%
Lung
38%
Ovary
24%
Bone Marrow
18%
Gene Interaction Network
Click a node to explore
KLHL8SPSB1RBX1KBTBD8SPOPLKCTD17KLHL13
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q68DU9
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.78LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.59 [0.45–0.78]
RankingsWhere KLHL8 stands among ~20K protein-coding genes
  • #10,190of 20,598
    Most Researched40
  • #6,400of 17,882
    Most Constrained (LOEUF)0.78
Genes detectedKLHL8
Sources retrieved9 papers
Response time—
📄 Sources
9▼
1
KLHL8-mediated ubiquitination and TAX1BP1-dependent autophagic degradation of GPX4 drive neuronal ferroptosis.
PMID: 41478420
Free Radic Biol Med · 2026
1.00
2
Deciphering the alteration of MAP2 interactome caused by a schizophrenia-associated phosphorylation.
PMID: 39532265
Neurobiol Dis · 2024
0.89
3
Control of rapsyn stability by the CUL-3-containing E3 ligase complex.
PMID: 19158078
J Biol Chem · 2009
0.78
4
Exploring therapeutic targets for hepatocellular carcinoma through druggable genes.
PMID: 41029168
Medicine (Baltimore) · 2025
0.67
5
Exome Sequencing Identified Susceptible Genes for High Residual Risks in Early-Onset Coronary Atherosclerotic Disease.
PMID: 39673281
Clin Cardiol · 2024
0.56