Corneodesmosin Active Protein | CDSN active protein

Corneodesmosin, Recombinant, Human (CDSN, D6S586E, HTSS, S protein)

Cat. Num. AAA635804

• Gene Names: CDSN; S; PSS; HTSS; HTSS1; D6S586E
• Purity: Purified; 95% (SDS-PAGE)
• Synonyms: Corneodesmosin; Recombinant; Human (CDSN; D6S586E; HTSS; S protein); CDSN active protein

• Purity/Purification: Purified; 95% (SDS-PAGE)
• Form/Format: Supplied as a lyophilized powder from PBS. Carrier free. Reconstitute with 200ug/ml PBS.

• Biological Activity: Measured by the ability of the immobilized protein to support the adhesion of BUD-8 human skin fibroblast cells. When 3x10e4 cells/well are added to CDSN coated plates (10ug/ml, 100ul/well), ~50-80% will adhere after 1h at 37 degree C.
• Endotoxin Level: 1EU/ug (LAL)
• Preparation and Storage: Lyophilized powder may be stored at -20 degree C. Reconstitute with 200ug/ml PBS. Aliquot and store at -20 degree C. Reconstituted product is stable for 6 months at -20 degree C. For maximum recovery of product, centrifuge the original vial after thawing and prior to removing the cap. Further dilutions can be made in assay buffer.

Related Product Information for CDSN active protein

Corneodesmosin, al so known as CDSN and the S gene product, is a highly polymorphic secreted glycoprotein that plays an important structural role in the skin. It is expressed by differentiated keratinocytes in the corneal layer of the skin and is a major component of corneodesmosomes. It is also expressed in the inner root sheath of hair follicles. Corneodesmosome has a high content of glycine, serine, and proline residues that promote its folding into a series of Gly-loop domains. Corneodesmosin forms oligomers and associates homophilically to strengthen the adhesion between corneocytes. Corneodesmosin-deficient mice exhibit a detachment of the corneal layer of the skin as well as hypotrichosis of the scalp and baldness. Corneodesmosin is secreted by keratinocytes as a 52-56kD molecule which is then subjected to repeated sequential N- and C-terminal proteolysis. Species of 46, 43, 36, and 15kD are present in corneocytes. Cleavage of the N-terminal Gly-loop diminishes Corneodesmosin's ability to mediate adhesion, and this is a prerequisite for normal desquamation of the skin. Reduced proteolysis of Corneodesmosin in psoriasis lesions is associated with the persistence of corneodesmosomes and scale retention. Premature truncation of Corneodesmosin is associated with hypotrichosis of the scalp.

Product Categories/Family for CDSN active protein

Molecular Biology; MB-Carbohydrates; Glycoproteins

NCBI and Uniprot Product Information

• NCBI GI #: 67782356
• NCBI GeneID: 1041
• NCBI Accession #: NP_001255.3
• NCBI GenBank Nucleotide #: NM_001264.4
• UniProt Accession #: Q15517; O43509; Q5SQ85; Q5STD2; Q7LA70; Q7LA71; Q86Z04; Q8IZU4; Q8IZU5; Q8IZU6; B0S7V2; B0UYZ7
• Molecular Weight: 60kD
• NCBI Official Full Name: corneodesmosin
• NCBI Official Synonym Full Names: corneodesmosin
• NCBI Official Symbol: CDSN
• NCBI Official Synonym Symbols: S; PSS; HTSS; HTSS1; D6S586E
• NCBI Protein Information: corneodesmosin; differentiated keratinocyte S protein
• UniProt Protein Name: Corneodesmosin
• Protein Family: Corneodesmosin
• UniProt Gene Name: CDSN
• UniProt Entry Name: CDSN_HUMAN

NCBI Description

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 Description

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, signal peptide; Cell adhesion; Secreted

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