CDSN Chromosome 6
Corneodesmosin
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What This Gene Does
This gene encodes a protein found in corneodesmosomes, which localize to human epidermis and other cornified squamous epithelia. The encoded protein undergoes a series of cleavages during corneocyte maturation. This gene is highly polymorphic in human populations, and variation has been associated with skin diseases such as psoriasis, hypotrichosis and peeling skin syndrome. The gene is located in the major histocompatibility complex (MHC) class I region on chromosome 6. [provided by RefSeq, Dec 2014]
Associated Conditions (4)
Inborn genetic diseases
Peeling skin syndrome 1
CDSN-related disorder
Hypotrichosis 2
Key Variants
RS752840782
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1246486951
Likely pathogenic
Peeling skin syndrome 1, Peeling skin syndrome 1
Health Risk
RS2481088704
Likely pathogenic
CDSN-related disorder, CDSN-related disorder
Health Risk
RS2481089559
Likely pathogenic
Peeling skin syndrome 1, Peeling skin syndrome 1
Health Risk
RS121917819
Pathogenic
Hypotrichosis 2, Hypotrichosis 2
Health Risk
RS121917820
Pathogenic
Hypotrichosis 2, Hypotrichosis 2
Health Risk
RS387906841
Pathogenic
Peeling skin syndrome 1, Peeling skin syndrome 1
Health Risk
RS606231275
Pathogenic
Peeling skin syndrome 1, Peeling skin syndrome 1
Health Risk
RS672601343
Pathogenic
Peeling skin syndrome 1, Peeling skin syndrome 1
Health Risk
All Variants (9)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS752840782 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1246486951 | Health Risk | Likely pathogenic | Peeling skin syndrome 1, Peeling skin syndrome 1 |
| RS2481088704 | Health Risk | Likely pathogenic | CDSN-related disorder, CDSN-related disorder |
| RS2481089559 | Health Risk | Likely pathogenic | Peeling skin syndrome 1, Peeling skin syndrome 1 |
| RS121917819 | Health Risk | Pathogenic | Hypotrichosis 2, Hypotrichosis 2 |
| RS121917820 | Health Risk | Pathogenic | Hypotrichosis 2, Hypotrichosis 2 |
| RS387906841 | Health Risk | Pathogenic | Peeling skin syndrome 1, Peeling skin syndrome 1 |
| RS606231275 | Health Risk | Pathogenic | Peeling skin syndrome 1, Peeling skin syndrome 1 |
| RS672601343 | Health Risk | Pathogenic | Peeling skin syndrome 1, Peeling skin syndrome 1 |