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3 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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LCE4A
late cornified envelope 4A
Chromosome 1 · 1q21.3
NCBI Gene: 199834Ensembl: ENSG00000187170.6HGNC: HGNC:16613UniProt: Q5TA78
11PubMed Papers
5Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingidentical protein bindingepidermis developmentatopic eczemaCandidemiameningeal tuberculosissecondary progressive multiple sclerosis
✦AI Summary

LCE4A (late cornified envelope 4A) is a structural protein that serves as a precursor of the cornified envelope in the stratum corneum, contributing to skin barrier formation 1. The gene functions through protein-protein interactions, with demonstrated binding capabilities that are essential for normal epidermal structure [UniProt annotation]. Beyond its primary structural role, LCE4A has emerged as a significant immunological factor. Genetic variants in the LCE4A-C1orf68 locus are strongly associated with susceptibility to candidemia, a serious bloodstream infection caused by Candida species 2. Individuals carrying two or more risk alleles at this locus demonstrate a 19.4-fold increased risk for candidemia compared to those without risk alleles 2. The LCE4A-C1orf68 variant also showed the strongest association with bladder cancer in an arsenic-exposed population from the Atacama Desert, suggesting involvement in epithelial immune barrier function during malignant transformation 1. However, in a clinical cohort of home parenteral nutrition patients, the LCE4A-C1orf68 SNP was not independently associated with candidemia development, suggesting that genetic predisposition may require additional clinical cofactors 3. These findings indicate that LCE4A functions at the intersection of structural barrier integrity and innate immune defense.

Sources cited
1
LCE4A-C1orf68 SNPs are significantly associated with candidemia susceptibility (P = 1.98 × 10⁻¹⁰; OR = 4.25) with 19.4-fold increased risk for carriers of multiple risk alleles
PMID: 25197941
2
LCE4A-C1orf68 variant showed strongest association with bladder cancer in arsenic-exposed population and may be involved in epithelial immune barrier function
PMID: 31384924
3
LCE4A-Clorf68 SNP was not independently associated with candidemia or infection severity in home parenteral nutrition patients
PMID: 31074043
⚠Limited data available — This gene has 3 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ5
atopic eczemaOpen Targets
0.03Suggestive
CandidemiaOpen Targets
0.01Suggestive
meningeal tuberculosisOpen Targets
0.00Suggestive
secondary progressive multiple sclerosisOpen Targets
0.00Suggestive
retinopathyOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
LCE7AShared pathway100%KPLCEShared pathway100%KRTDAPShared pathway100%LCE3EShared pathway100%LCE1EProtein interaction100%LCE1AProtein interaction99%
Tissue Expression6 tissues
Heart
0%
Lung
0%
Brain
0%
Bone Marrow
0%
Ovary
0%
Liver
0%
Gene Interaction Network
Click a node to explore
LCE4ALCE7AKPLCEKRTDAPLCE3ELCE1ELCE1A
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q5TA78
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.94LoF Tolerant
pLIⓘ
0.11Tolerant
Observed/Expected LoF4.35 [0.40–1.94]
RankingsWhere LCE4A stands among ~20K protein-coding genes
  • #16,809of 20,598
    Most Researched11
  • #17,591of 17,882
    Most Constrained (LOEUF)1.94
Genes detectedLCE4A
Sources retrieved3 papers
Response time—
📄 Sources
3
1
Contribution of Genetic and Clinical Risk Factors to Development of Candidemia in Patients Receiving Home Parenteral Nutrition.
PMID: 31074043
JPEN J Parenter Enteral Nutr · 2020
1.00
2
Adaptation to Extreme Environments in an Admixed Human Population from the Atacama Desert.
PMID: 31384924
Genome Biol Evol · 2019
0.67
3
Immunochip SNP array identifies novel genetic variants conferring susceptibility to candidaemia.
PMID: 25197941
Nat Commun · 2014
0.33