catalog number :
MBS713765
products full name :
Rabbit anti-human corneodesmosin polyclonal Antibody
products short name :
corneodesmosin
products name syn :
corneodesmosin; CDSN; D6S586E; HTSS; S
other names :
corneodesmosin; Corneodesmosin; corneodesmosin; differentiated keratinocyte S protein; corneodesmosin; S protein
other gene names :
CDSN; CDSN; S; PSS; HTSS; HTSS1; HYPT2; D6S586E
uniprot entry name :
CDSN_HUMAN
reactivity :
Human, Mouse
purity :
Antigen Affinity Purified
tested application :
ELISA (EIA), Immunohistochemistry (IHC)
other info1 :
Immunogen: Human CDSN
other info2 :
Storage Buffer: PBS with 0.02% Sodium Azide, 50% Glycerol, pH 7.3. -20 degree C, Avoid freeze / thaw cycles.
ncbi acc num :
NP_001255.3
ncbi gb acc num :
NM_001264.4
ncbi mol weight :
51,522 Da
ncbi summary :
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 summary :
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; epidermis development; cell-cell adhesion; skin morphogenesis; cell adhesion. Disease: Peeling Skin Syndrome 1; Hypotrichosis 2