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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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LORICRIN
loricrin cornified envelope precursor protein
Chromosome 1 Β· 1q21.3
NCBI Gene: 4014Ensembl: ENSG00000203782.6HGNC: HGNC:6663UniProt: P23490
63PubMed Papers
21Diseases
0Drugs
8Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
cornified envelopeprotein bindingstructural constituent of skin epidermiscytoplasmloricrin keratodermaKeratoderma hereditarium mutilans with ichthyosisMoyamoya diseaseAbruptio Placentae
✦AI Summary

Loricrin is a major structural protein component of the cornified envelope (CE), a specialized macromolecular protein-lipid complex that replaces the plasma membrane during terminal keratinocyte differentiation 1. Located primarily in the granular layer of human epidermis 2, loricrin becomes incorporated into the CE of stratum corneum cells where it is cross-linked with other proteins to form an insoluble, mechanically resilient barrier 2. This barrier provides desiccation tolerance and cytoprotection critical for skin function 3. Loricrin expression is tightly regulated by inflammatory cytokines and transcription factors; IL-4, IL-13, IL-17A, and IL-22 potently inhibit loricrin expression via STAT3/STAT6 pathways, while aryl hydrocarbon receptor (AHR) and NRF2 agonists upregulate it 4. Loricrin downregulation is associated with barrier dysfunction in atopic dermatitis and psoriasis 5, with periodontitis patients showing the most severe downregulation (-6.89x) 5. Mutations in the loricrin gene cause Vohwinkel syndrome and progressive symmetric erythrokeratoderma, characterized by abnormal protein localization and thinner CEs 6. Despite loricrin's structural significance, knockout mice demonstrate it is dispensable for barrier permeability but affects broader skin homeostasis 3. Therapeutically, abrocitinib enhances loricrin expression in atopic dermatitis lesional skin more effectively than dupilumab 7.

Sources cited
1
Loricrin is a component of the cornified envelope that replaces the plasma membrane in terminally differentiated keratinocytes and is cross-linked by transglutaminases
PMID: 15803139
2
Loricrin is the major protein of the cornified cell envelope, appears in granular layer, forms composite keratohyalin granules, and localizes to cell periphery in stratum corneum
PMID: 1355480
3
Loricrin is a major CE component providing mechanical resilience and desiccation tolerance; loricrin knockout mice show it is dispensable for permeability barrier but affects broader skin homeostasis
PMID: 32218335
4
IL-4, IL-13, IL-17A, and IL-22 inhibit loricrin expression via STAT pathways; AHR and NRF2 agonists upregulate loricrin expression
PMID: 32751111
5
Loricrin downregulation is associated with atopic dermatitis, psoriasis, periodontitis, and inherited keratodermas; periodontitis shows highest decrease in loricrin expression
PMID: 31846220
6
Loricrin mutations cause Vohwinkel syndrome and progressive symmetric erythrokeratoderma with abnormal intranuclear localization and thinner cornified envelopes
PMID: 9690138
7
Abrocitinib enhances loricrin expression in lesional skin of atopic dermatitis patients more effectively than dupilumab
PMID: 40246083
Disease Associationsβ“˜21
loricrin keratodermaOpen Targets
0.59Moderate
Keratoderma hereditarium mutilans with ichthyosisOpen Targets
0.37Weak
Moyamoya diseaseOpen Targets
0.26Weak
Abruptio PlacentaeOpen Targets
0.20Weak
cervical carcinomaOpen Targets
0.08Suggestive
abscessOpen Targets
0.06Suggestive
Testicular regression syndromeOpen Targets
0.05Suggestive
congenital non-bullous ichthyosiform erythrodermaOpen Targets
0.05Suggestive
psoriasisOpen Targets
0.05Suggestive
erythrokeratodermia variabilisOpen Targets
0.05Suggestive
epidermolytic hyperkeratosis 2A, autosomal dominantOpen Targets
0.05Suggestive
lamellar ichthyosisOpen Targets
0.05Suggestive
peeling skin syndrome 6Open Targets
0.04Suggestive
renal cysts and diabetes syndromeOpen Targets
0.04Suggestive
Senior-Boichis syndromeOpen Targets
0.04Suggestive
ichthyosis, congenital, autosomal recessive 14Open Targets
0.04Suggestive
hepatorenocardiac degenerative fibrosisOpen Targets
0.04Suggestive
ichthyosis with erythrokeratodermaOpen Targets
0.04Suggestive
acne inversa, familial, 3Open Targets
0.04Suggestive
psoriasis 2Open Targets
0.04Suggestive
Vohwinkel syndrome with ichthyosisUniProt
Pathogenic Variants8
NM_000427.3(LORICRIN):c.684dup (p.Ser229fs)Pathogenic
not provided|Loricrin keratoderma
β˜…β˜…β˜†β˜†2025β†’ Residue 229
NM_000427.3(LORICRIN):c.484G>T (p.Gly162Ter)Likely pathogenic
Loricrin keratoderma
β˜…β˜†β˜†β˜†2024β†’ Residue 162
NM_000427.3(LORICRIN):c.806dup (p.Ser270fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 270
NM_000427.3(LORICRIN):c.515dup (p.Gly173fs)Pathogenic
Loricrin keratoderma
β˜…β˜†β˜†β˜†2022β†’ Residue 173
NM_000427.3(LORICRIN):c.624C>G (p.Tyr208Ter)Likely pathogenic
Loricrin keratoderma
β˜…β˜†β˜†β˜†2021β†’ Residue 208
NM_000427.3(LORICRIN):c.673dup (p.Tyr225fs)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2019β†’ Residue 225
NM_000427.3(LORICRIN):c.664dup (p.Gln222fs)Pathogenic
Loricrin keratoderma
β˜†β˜†β˜†β˜†2000β†’ Residue 222
NM_000427.3(LORICRIN):c.619G>T (p.Gly207Cys)Likely pathogenic
Moyamoya angiopathy
β˜†β˜†β˜†β˜†β†’ Residue 207
View on ClinVar β†—
Related Genes
KRT5Protein interaction100%LCE1AProtein interaction95%KRT1Protein interaction92%SPRR2GProtein interaction90%KRT2Protein interaction87%PPLProtein interaction84%
Tissue Expression6 tissues
Ovary
100%
Lung
71%
Liver
71%
Brain
0%
Heart
0%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
LORICRINKRT5LCE1AKRT1SPRR2GKRT2PPL
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt P23490
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.94LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF1.57 [0.78–1.94]
RankingsWhere LORICRIN stands among ~20K protein-coding genes
  • #7,382of 20,598
    Most Researched63
  • #3,076of 5,498
    Most Pathogenic Variants8
  • #17,554of 17,882
    Most Constrained (LOEUF)1.94
Genes detectedLORICRIN
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Regulation of Filaggrin, Loricrin, and Involucrin by IL-4, IL-13, IL-17A, IL-22, AHR, and NRF2: Pathogenic Implications in Atopic Dermatitis.
PMID: 32751111
Int J Mol Sci Β· 2020
1.00
2
Nicotinamide Prevents UVB- and Oxidative Stressβ€’Induced Photoaging in Human Primary Keratinocytes.
PMID: 34740582
J Invest Dermatol Β· 2022
0.90
3
The cornified envelope: a model of cell death in the skin.
PMID: 15803139
Nat Rev Mol Cell Biol Β· 2005
0.80
4
Loricrin and human skin diseases: molecular basis of loricrin keratodermas.
PMID: 9690138
Histol Histopathol Β· 1998
0.70
5
The human loricrin gene.
PMID: 1355480
J Biol Chem Β· 1992
0.60