LCE3C Late Cornified Envelope 3C
A component of the cornified envelope involved in epidermal barrier function and skin homeostasis.
Gene Information Card
| Symbol | LCE3C |
|---|---|
| Full Name | Late Cornified Envelope 3C |
| Gene Type | Protein coding |
| Chromosomal Location | 1q21.3 |
| NCBI Gene ID | 353144 ncbi.nlm.nih.gov/gene/353144 |
| Ensembl ID | ENSG00000203722 |
| UniProt ID | Q5T5A8 |
| OMIM ID | 612603 |
| HGNC ID | 29446 |
| Aliases | LEP3C, LCE3C |
Description
LCE3C (Late Cornified Envelope 3C) is a protein-coding gene located within the epidermal differentiation complex (EDC) on chromosome 1q21.3. It encodes a component of the cornified envelope, a specialized structure that forms beneath the plasma membrane of terminally differentiated keratinocytes, providing a physical barrier against environmental insults. LCE3C expression is induced during keratinocyte differentiation and is involved in skin barrier integrity. Genetic variation in LCE3C has been associated with susceptibility to psoriasis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Psoriasis | Deletion of LCE3C (and LCE3B) reduces cornified envelope protein availability, impairing skin barrier function and increasing susceptibility to inflammatory triggers. | OMIM #612603; GWAS studies (deCODE, 2009) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skin | 12.5 | Medium |
| Esophagus | 8.2 | Low |
| Vagina | 6.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HaCaT (keratinocyte) | 15.3 | Differentiated keratinocyte model |
| A431 (epidermoid carcinoma) | 9.8 | Squamous cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| LCE3C_LCE3B-del (common deletion) | Deletion | ~60% in European populations | Loss of LCE3C and LCE3B; associated with psoriasis risk |
Mutation functional classification
Loss of Function (LOF)
Common deletion of LCE3C and LCE3B leads to reduced cornified envelope protein expression, impairing barrier function.
Gain of Function (GOF)
None reported.
Dominant Negative (DN)
None reported.
View complete mutation data：
Gene Ontology (GO)
| • cornified envelope | • keratinocyte differentiation |
| • epidermis development | • structural molecule activity |
Pathways
• Keratinocyte differentiation
• Formation of the cornified envelope
Protein Summary
The LCE3C protein is a late cornified envelope protein expressed in the upper layers of the epidermis. It cross-links with other envelope proteins (e.g., loricrin, involucrin) via transglutaminase activity to form a resilient barrier. Its expression is upregulated during terminal differentiation of keratinocytes.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| LCE3C Knockout HEK293 Cell Line | EDJ-KQ13279 | Human | 353144 | Details Get a Quote |
| LCE3C Knockout HeLa Cell Line | EDJ-KQ59863 | Human | 353144 | Details Get a Quote |
| LCE3C Knockout A-549 Cell Line | EDJ-KQ68327 | Human | 353144 | Details Get a Quote |
| LCE3C Knockout HCT 116 Cell Line | EDJ-KQ76702 | Human | 353144 | Details Get a Quote |
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