NP_001255.3
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NCBI GenBank Nucleotide #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
51,522 Da
NCBI Official Full Name
corneodesmosin
NCBI Official Synonym Full Names
corneodesmosin
NCBI Official Synonym Symbols
S; PSS; HTSS; PSS1; HTSS1; HYPT2 [Similar Products]
NCBI Protein Information
corneodesmosin
UniProt Protein Name
Corneodesmosin
UniProt Synonym Protein Names
S protein
UniProt Entry Name
CDSN_HUMAN
NCBI Summary for CDSN
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]
UniProt Comments for CDSN
CDSN: Important for the epidermal barrier integrity. Defects in CDSN are the cause of hypotrichosis type 2 (HYPT2). A condition characterized by the presence of less than the normal amount of hair. Affected individuals have normal hair in early childhood but experience progressive hair loss limited to the scalp beginning in the middle of the first decade and almost complete baldness by the third decade. Body hair, beard, eyebrows, axillary hair, teeth, and nails develop normally. Defects in CDSN are a cause of peeling skin syndrome (PSS); also known as peeling skin syndrome or deciduous skin or keratolysis exfoliativa congenita. A genodermatosis characterized by generalized, continuous shedding of the outer layers of the epidermis. Two main PSS subtypes have been suggested. Patients with non-inflammatory PSS (type A) manifest white scaling, with painless and easy removal of the skin, irritation when in contact with water, dust and sand, and no history of erythema, pruritis or atopy. Inflammatory PSS (type B) is associated with generalized erythema, pruritus and atopy. It is an ichthyosiform erythroderma characterized by lifelong patchy peeling of the entire skin with onset at birth or shortly after. Several patients have been reported with high IgE levels. CDNS mutations are responsible for generalized, inflammatory peeling skin syndrome type B (PubMed:20691404).
Protein type: Secreted; Cell adhesion; Secreted, signal peptide
Chromosomal Location of Human Ortholog: 6p21.3
Cellular Component: cornified envelope; desmosome; intercellular junction
Molecular Function: protein homodimerization activity
Biological Process: cell adhesion; cell-cell adhesion; epidermis development; keratinocyte differentiation; skin morphogenesis
Disease: Hypotrichosis 2; Peeling Skin Syndrome 1
Research Articles on CDSN
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Diseases associated with CDSN elisa kit
Organs/Tissues associated with CDSN elisa kit
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