ID:CDSN_HUMAN DESCRIPTION: RecName: Full=Corneodesmosin; AltName: Full=S protein; Flags: Precursor; FUNCTION: Important for the epidermal barrier integrity. SUBCELLULAR LOCATION: Secreted. Note=Found in corneodesmosomes, the intercellular structures that are involved in desquamation. TISSUE SPECIFICITY: Exclusively expressed in skin. POLYMORPHISM: Genetic variation in CDSN may be associated with susceptibility to psoriasis [MIM:177900]. Various CDSN alleles are known including alleles 1.11, 1.21, 1.31, 1.32, 1.41, 1.42, 1.43, 1.51, 1.52, 2.11, 2.21, 2.22 and 2.23. DISEASE: Defects in CDSN are the cause of hypotrichosis type 2 (HYPT2) [MIM:146520]. 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. DISEASE: Defects in CDSN are a cause of peeling skin syndrome (PSS) [MIM:270300]; 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. Note=CDNS mutations are responsible for generalized, inflammatory peeling skin syndrome type B (PubMed:20691404). SEQUENCE CAUTION: Sequence=AAA21321.1; Type=Frameshift; Positions=501; Sequence=BAB63316.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=BAC54948.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q15517
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
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Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
