Product Information
Molecular Weight295220Da
Protein NameCollagen alpha-1(VII) chain
Human Gene Id1294
Human Swiss Prot NoQ02388
Mouse Gene Id12836
Mouse Swiss Prot NoQ63870
SpecificityCOL7A1 Polyclonal Antibody detects endogenous levels of COL7A1 protein.
FormulationLiquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
Concentration1 mg/ml
Storage Stability-20°C/1 year
Other NameCOL7A1; Collagen alpha-1(VII) chain; Long-chain collagen; LC collagen
Functiondisease:Defects in COL7A1 are the cause of epidermolysis bullosa dystrophica (DEB) [MIM:131750, 226600]. DEB defines a group of blistering skin diseases characterized by tissue separation which occurs below the dermal-epidermal basement membrane at the level of the anchoring fibrils. Inheritance can be autosomal dominant or recessive. Various clinical types with different severity are recognized, ranging from severe mutilating forms to mild forms with limited and localized scarring, and less frequent extracutaneous manifestations. Mild forms include epidermolysis bullosa mitis and epidermolysis bullosa localisata.,disease:Defects in COL7A1 are the cause of epidermolysis bullosa dystrophica Bart type (B-DEB) [MIM:132000]. B-DEB is an autosomal dominant form of dystrophic epidermolysis bullosa characterized by congenital localized absence of skin, skin fragility and deformity of nails.,dis
Subcellular LocationGolgi membrane,extracellular region,collagen trimer,collagen type VII trimer,basement membrane,extracellular space,endoplasmic reticulum lumen,ER to Golgi transport vesicle,extracellular matrix,endoplasmic reticulum-Golgi intermediate compart
ExpressionKeratinocyte,Placenta,Spleen,
Backgroundcollagen type VII alpha 1 chain(COL7A1) Homo sapiens This gene encodes the alpha chain of type VII collagen. The type VII collagen fibril, composed of three identical alpha collagen chains, is restricted to the basement zone beneath stratified squamous epithelia. It functions as an anchoring fibril between the external epithelia and the underlying stroma. Mutations in this gene are associated with all forms of dystrophic epidermolysis bullosa. In the absence of mutations, however, an acquired form of this disease can result from an autoimmune response made to type VII collagen. [provided by RefSeq, Jul 2008],