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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.
LCE1A
late cornified envelope 1A
Chromosome 1 Β· 1q21.3
NCBI Gene: 353131Ensembl: ENSG00000186844.6HGNC: HGNC:29459UniProt: Q5T7P2
6PubMed Papers
9Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingcytosolepidermis developmentneurodegenerative diseaselower respiratory tract diseasecoronary artery diseasecervical carcinoma
✦AI Summary

Based on limited published evidence, LCE1A encodes a precursor protein of the cornified envelope in the stratum corneum, the outermost layer of the epidermis. It functions in protein binding and localizes to the cytosol. LCE1A is part of the Epidermal Differentiation Complex and has undergone positive selection in human populations, with selective sweeps for LCE1A-SMCP haplotypes associated with skin barrier adaptation during human migration out-of-Africa, reaching near fixation in European populations 1.

Sources cited
1
LCE1A-SMCP haplotypes showed selective sweeps associated with skin barrier adaptation and human migration out-of-Africa
PMID: 33963188
⚠Limited data available β€” This gene has 1 indexed publication. Summary and analysis may be incomplete.
Disease Associationsβ“˜9
neurodegenerative diseaseOpen Targets
0.37Weak
lower respiratory tract diseaseOpen Targets
0.04Suggestive
coronary artery diseaseOpen Targets
0.01Suggestive
cervical carcinomaOpen Targets
0.01Suggestive
neoplasmOpen Targets
0.00Suggestive
Epileptic encephalopathyOpen Targets
0.00Suggestive
obesityOpen Targets
0.00Suggestive
cutaneous lupus erythematosusOpen Targets
0.00Suggestive
breast carcinomaOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar β†—
Related Genes
LCE7AShared pathway100%KPLCEShared pathway100%KRTDAPShared pathway100%LCE1EProtein interaction100%SPRR2BProtein interaction99%SPRR2GProtein interaction99%
Tissue Expression6 tissues
Heart
0%
Lung
0%
Ovary
0%
Bone Marrow
0%
Liver
0%
Brain
0%
Gene Interaction Network
Click a node to explore
LCE1ALCE7AKPLCEKRTDAPLCE1ESPRR2BSPRR2G
PROTEIN STRUCTURE
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AlphaFoldAI-predicted Β· UniProt Q5T7P2
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.27LoF Tolerant
pLIβ“˜
0.11Tolerant
Observed/Expected LoF0.56 [0.27–1.27]
RankingsWhere LCE1A stands among ~20K protein-coding genes
  • #18,108of 20,598
    Most Researched6
  • #13,410of 17,882
    Most Constrained (LOEUF)1.27
Genes detectedLCE1A
Sources retrieved1 papers
Response timeβ€”
πŸ“„ Sources
1
1
Selective sweep for an enhancer involucrin allele identifies skin barrier adaptation out of Africa.
PMID: 33963188
Nat Commun Β· 2021
1.00