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GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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KLHL24
kelch like family member 24
Chromosome 3 · 3q27.1
NCBI Gene: 54800Ensembl: ENSG00000114796.17HGNC: HGNC:25947UniProt: Q6TFL4
38PubMed Papers
22Diseases
0Drugs
11Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingprotein autoubiquitinationcytoplasmadherens junctionepidermolysis bullosa simplex 6, generalized, with scarring and hair losscicatricial alopeciacardiomyopathy, familial hypertrophic, 29, with polyglucosan bodiesGeneralized epidermolysis bullosa simplex, non-Dowling-Meara type
✦AI Summary

KLHL24 is a cullin 3-based E3 ubiquitin ligase substrate adaptor that regulates protein turnover through targeted ubiquitination and degradation 1. Its primary function is maintaining intermediate filament stability and degradation balance essential for skin integrity 1. As part of the BCR(KLHL24) E3 ubiquitin ligase complex, KLHL24 mediates ubiquitination of keratin 14 (KRT14) and controls its levels during keratinocyte differentiation 1. In cardiac tissue, KLHL24 degradation substrates include multiple intermediate filament proteins—desmin, synemin, and vimentin—whose excessive degradation drives pathology 2. Pathogenic mutations (primarily start-codon variants) produce stabilized KLHL24 truncations with abolished autoubiquitination, leading to excessive substrate degradation 1. This gain-of-function mechanism causes epidermolysis bullosa simplex with cutaneous fragility and recently recognized cardiomyopathy presentations 3. KLHL24 mutations are associated with hypertrophic cardiomyopathy, dilated cardiomyopathy, and left ventricular non-compaction, with autosomal dominant and recessive inheritance patterns documented 456. KLHL24-associated cardiomyopathy involves intermediate filament degradation, mitochondrial dysfunction, and fibrotic remodeling 2. The ClinGen Expert Panel assigned KLHL24 moderate evidence classification for HCM causation 45.

Sources cited
1
KLHL24 is a cullin 3-RBX1 ubiquitin ligase substrate receptor; maintains intermediate filament stability; mediates KRT14 ubiquitination during keratinocyte differentiation; mutations cause EB through KRT14 degradation
PMID: 27798626
2
KLHL24 is a component of the ubiquitin-proteasome system involved in protein turnover; germline mutations cause both epidermolysis bullosa simplex and cardiomyopathy with variable clinical presentations
PMID: 39708934
3
KLHL24 mutations drive intermediate filament (desmin, synemin, vimentin) degradation, mitochondrial dysfunction, and fibrosis in heart failure; gain-of-function mechanism affects multiple cardiac cell types
PMID: 41348940
4
ClinGen HCVD-GCEP curated KLHL24 with moderate evidence for HCM causation; five genes recently reported to cause HCM including KLHL24
PMID: 39132495
5
KLHL24 assigned moderate evidence classification for HCM or isolated left ventricular hypertrophy by ClinGen HCVD-GCEP
PMID: 39971408
6
Homozygous KLHL24 variants linked with mixed dilated/hypertrophic cardiomyopathy and non-compaction features; autosomal recessive inheritance in consanguineous families
PMID: 36672924
7
KLHL24 variants identified as disease-causing in small numbers of HCM patients; encodes non-sarcomeric protein with diverse functions
PMID: 34526680
Disease Associationsⓘ22
epidermolysis bullosa simplex 6, generalized, with scarring and hair lossOpen Targets
0.69Moderate
cicatricial alopeciaOpen Targets
0.62Moderate
cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodiesOpen Targets
0.60Moderate
Generalized epidermolysis bullosa simplex, non-Dowling-Meara typeOpen Targets
0.48Moderate
Basal epidermolysis bullosa simplexOpen Targets
0.46Moderate
esophageal diseaseOpen Targets
0.39Weak
atrial fibrillationOpen Targets
0.39Weak
gastroesophageal reflux diseaseOpen Targets
0.34Weak
COVID-19Open Targets
0.28Weak
hypertensionOpen Targets
0.26Weak
post-operative sign or symptomOpen Targets
0.23Weak
Abruptio PlacentaeOpen Targets
0.23Weak
hypertrophic cardiomyopathyOpen Targets
0.23Weak
genetic disorderOpen Targets
0.19Weak
cardiomyopathyOpen Targets
0.13Weak
injuryOpen Targets
0.10Weak
infectionOpen Targets
0.08Suggestive
epidermolysis bullosa simplexOpen Targets
0.03Suggestive
skin atrophyOpen Targets
0.02Suggestive
epidermolysis bullosaOpen Targets
0.02Suggestive
Cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodiesUniProt
Epidermolysis bullosa simplex 6, generalized intermediate, with or without cardiomyopathyUniProt
Pathogenic Variants11
NM_017644.3(KLHL24):c.1A>G (p.Met1Val)Pathogenic
Epidermolysis bullosa simplex, Koebner type|Epidermolysis bullosa simplex 6, generalized, with scarring and hair loss|not provided|KLHL24-related disorder
★★☆☆2023→ Residue 1
NM_017644.3(KLHL24):c.450del (p.Leu151fs)Likely pathogenic
Epidermolysis bullosa simplex 6, generalized, with scarring and hair loss
★☆☆☆2025→ Residue 151
NM_017644.3(KLHL24):c.917G>A (p.Arg306His)Pathogenic
Cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies
★☆☆☆2025→ Residue 306
NM_017644.3(KLHL24):c.1161G>A (p.Trp387Ter)Likely pathogenic
Epidermolysis bullosa simplex 6, generalized, with scarring and hair loss
★☆☆☆2024→ Residue 387
NM_017644.3(KLHL24):c.661C>T (p.Leu221Phe)Likely pathogenic
Epidermolysis bullosa simplex 6, generalized, with scarring and hair loss
★☆☆☆2024→ Residue 221
NM_017644.3(KLHL24):c.3G>C (p.Met1Ile)Pathogenic
Epidermolysis bullosa simplex 6, generalized, with scarring and hair loss
★☆☆☆2019→ Residue 1
NM_017644.3(KLHL24):c.1A>T (p.Met1Leu)Pathogenic
not provided
★☆☆☆2017→ Residue 1
NM_017644.3(KLHL24):c.3G>A (p.Met1Ile)Pathogenic
Epidermolysis bullosa simplex, Koebner type|Epidermolysis bullosa simplex 6, generalized, with scarring and hair loss
★☆☆☆2016→ Residue 1
NM_017644.3(KLHL24):c.3G>T (p.Met1Ile)Pathogenic
Epidermolysis bullosa simplex, Koebner type|Epidermolysis bullosa simplex 6, generalized, with scarring and hair loss
★☆☆☆2016→ Residue 1
NM_017644.3(KLHL24):c.2T>C (p.Met1Thr)Pathogenic
Epidermolysis bullosa simplex, Koebner type|Epidermolysis bullosa simplex 6, generalized, with scarring and hair loss
★☆☆☆2016→ Residue 1
NM_017644.3(KLHL24):c.1048G>T (p.Glu350Ter)Pathogenic
Cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies
☆☆☆☆2023→ Residue 350
View on ClinVar ↗
Related Genes
RBX1Protein interaction99%KLHL22Protein interaction93%KLHL42Protein interaction92%SPOPProtein interaction92%KLHL9Protein interaction92%KBTBD8Protein interaction92%
Tissue Expression6 tissues
Heart
100%
Brain
48%
Lung
40%
Bone Marrow
39%
Ovary
35%
Liver
28%
Gene Interaction Network
Click a node to explore
KLHL24RBX1KLHL22KLHL42SPOPKLHL9KBTBD8
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q6TFL4
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.65LoF Tolerant
pLIⓘ
0.21Tolerant
Observed/Expected LoF0.42 [0.28–0.65]
RankingsWhere KLHL24 stands among ~20K protein-coding genes
  • #10,501of 20,598
    Most Researched38
  • #2,795of 5,498
    Most Pathogenic Variants11
  • #4,704of 17,882
    Most Constrained (LOEUF)0.65
Genes detectedKLHL24
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Minor hypertrophic cardiomyopathy genes, major insights into the genetics of cardiomyopathies.
PMID: 34526680
Nat Rev Cardiol · 2022
1.00
2
ClinGen Hereditary Cardiovascular Disease Gene Curation Expert Panel: Reappraisal of Genes associated with Hypertrophic Cardiomyopathy.
PMID: 39132495
medRxiv · 2024
0.90
3
Genes Associated With Hypertrophic Cardiomyopathy: A Reappraisal by the ClinGen Hereditary Cardiovascular Disease Gene Curation Expert Panel.
PMID: 39971408
J Am Coll Cardiol · 2025
0.80
4
KLHL24 associated cardiomyopathy: Gene function to clinical management.
PMID: 39708934
Gene · 2025
0.70
5
Generation and genetic repair of two human induced pluripotent stem cell lines from patients with Epidermolysis Bullosa simplex associated with a heterozygous mutation in the translation initiation codon of KLHL24.
PMID: 39317060
Stem Cell Res · 2024
0.60