CDSN (Corneodesmosin)
A key component of corneodesmosomes in epidermal differentiation and associated with skin barrier disorders
Gene Information Card
| Symbol | CDSN |
|---|---|
| Full Name | Corneodesmosin |
| Gene Type | Protein coding |
| Chromosomal Location | 6p21.33 |
| NCBI Gene ID | 1041 ncbi.nlm.nih.gov/gene/1041 |
| Ensembl ID | ENSG00000198467 |
| UniProt ID | Q15517 |
| OMIM ID | 602593 |
| HGNC ID | 1800 |
| Aliases | HTSS, PSS, S, HTSS1, PSS1 |
Description
The CDSN gene encodes corneodesmosin, a protein component of corneodesmosomes that is essential for maintaining the integrity of the stratum corneum in the epidermis. It is expressed in the upper layers of the epidermis and plays a critical role in cell-cell adhesion and desquamation. Mutations in CDSN are associated with autosomal recessive hypotrichosis simplex of the scalp (HTSS) and peeling skin syndrome type 1 (PSS1).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Peeling skin syndrome type 1 (PSS1) | Loss-of-function mutations in CDSN disrupt corneodesmosome integrity, leading to superficial skin peeling and barrier dysfunction. | ClinVar, OMIM |
| Hypotrichosis simplex of the scalp (HTSS) | Mutations in CDSN cause abnormal hair shaft adhesion and premature hair loss due to defective corneodesmosin in the inner root sheath. | OMIM, NCBI |
| Atopic dermatitis (susceptibility) | Polymorphisms in the CDSN gene (e.g., rs471144) have been associated with altered skin barrier function and increased risk of atopic dermatitis. | NCBI, ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skin | 12.5 | High |
| Esophagus | 4.2 | Medium |
| Oral mucosa | 3.8 | Medium |
| Vagina | 2.1 | Low |
| Cervix | 1.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HaCaT (keratinocyte) | 15.3 | High expression |
| NHEK (normal human epidermal keratinocytes) | 18.7 | High expression |
| A431 (epidermoid carcinoma) | 8.9 | Medium expression |
| HEK293 (embryonic kidney) | 0.2 | Very low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.164C>T (p.Thr55Ile) | Missense | Rare | Associated with HTSS; disrupts protein stability |
| c.247C>T (p.Arg83*) | Nonsense | Rare | Loss-of-function; causes PSS1 |
| c.400_401del (p.Leu134fs) | Frameshift | Rare | Premature truncation; leads to PSS1 |
| c.559G>A (p.Gly187Arg) | Missense | Rare | Reported in HTSS; affects corneodesmosin adhesion |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations (e.g., p.Arg83*, p.Leu134fs) result in truncated or absent corneodesmosin, leading to peeling skin syndrome type 1.
Gain of Function (GOF)
No gain-of-function mutations have been reported for CDSN.
Dominant Negative (DN)
No dominant-negative mutations have been described; all disease-associated mutations are recessive.
View complete mutation data：
Gene Ontology (GO)
Pathways
• KEGG: hsa04514 - Cell adhesion molecules (CAMs)
• Reactome: R-HSA-446728 - Cell junction organization
• Reactome: R-HSA-6805567 - Keratinization
Protein Summary
Corneodesmosin is a 529-amino acid glycoprotein that localizes to corneodesmosomes in the stratum corneum and inner root sheath of hair follicles. It undergoes proteolytic processing during desquamation and is essential for maintaining epidermal barrier integrity. The protein contains a glycine-rich domain and multiple phosphorylation sites. Defects in CDSN cause skin peeling and hair loss disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CDSN Knockout HEK293 Cell Line | EDJ-KQ4247 | Human | 1041 | Details Get a Quote |
| CDSN Knockout HeLa Cell Line | EDJ-KQ52868 | Human | 1041 | Details Get a Quote |
| CDSN Knockout A-549 Cell Line | EDJ-KQ61338 | Human | 1041 | Details Get a Quote |
| CDSN Knockout HCT 116 Cell Line | EDJ-KQ69833 | Human | 1041 | Details Get a Quote |
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