NP_001255.3
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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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 Protein Information
corneodesmosin; differentiated keratinocyte S protein
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. During maturation of the cornified layers, the protein undergoes a series of cleavages, which are thought to be required for desquamation. The gene is located in the major histocompatibility complex (MHC) class I region on chromosome 6. [provided by RefSeq, Jul 2008]
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; Secreted, signal peptide; Cell adhesion
Chromosomal Location of Human Ortholog: 6p21.3
Cellular Component: desmosome; cornified envelope; intercellular junction
Molecular Function: protein homodimerization activity
Biological Process: keratinocyte differentiation; cell-cell adhesion; epidermis development; skin morphogenesis; cell adhesion
Disease: Peeling Skin Syndrome 1; Hypotrichosis 2
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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