COL17A1 Recombinant Monoclonal Antibody

Uniprot Id

Q9UMD9

Target Species

Human

Target Name

COL17A1

Target Full Name

Collagen alpha-1(XVII) chain

Target Function

May play a role in the integrity of hemidesmosome and the attachment of basal keratinocytes to the underlying basement membrane.; The 120 kDa linear IgA disease antigen is an anchoring filament component involved in dermal-epidermal cohesion. Is the target of linear IgA bullous dermatosis autoantibodies.

Target Involvement

Generalized atrophic benign epidermolysis bullosa (GABEB); Epithelial recurrent erosion dystrophy (ERED)

Target Subcellular Location

Cell junction, hemidesmosome. Membrane; Single-pass type II membrane protein. Note=Localized along the plasma membrane of the hemidesmosome.; [120 kDa linear IgA disease antigen]: Secreted, extracellular space, extracellular matrix, basement membrane. Note=Exclusively localized to anchoring filaments. Localized to the epidermal side of split skin.; [97 kDa linear IgA disease antigen]: Secreted, extracellular space, extracellular matrix, basement membrane. Note=Localized in the lamina lucida beneath the hemidesmosomes.

Target Tissue Specificity

Detected in skin. In the cornea, it is detected in the epithelial basement membrane, the epithelial cells, and at a lower level in stromal cells (at protein level). Stratified squamous epithelia. Found in hemidesmosomes. Expressed in cornea, oral mucosa,

Target Research Area

Signal Transduction

Target Synonyms

COL17A1; BP180; BPAG2Collagen alpha-1(XVII) chain; 180 kDa bullous pemphigoid antigen 2; Bullous pemphigoid antigen 2) [Cleaved into: 120 kDa linear IgA disease antigen; 120 kDa linear IgA dermatosis antigen; Linear IgA disease antigen 1; LAD-1); 97 kDa linear IgA disease antigen; 97 kDa linear IgA bullous dermatosis antigen; 97 kDa LAD antigen; 97-LAD; Linear IgA bullous disease antigen of 97 kDa; LABD97)]

Target Background

This gene encodes the alpha chain of type XVII collagen. Unlike most collagens, collagen XVII is a transmembrane protein. Collagen XVII is a structural component of hemidesmosomes, multiprotein complexes at the dermal-epidermal basement membrane zone that mediate adhesion of keratinocytes to the underlying membrane. Mutations in this gene are associated with both generalized atrophic benign and junctional epidermolysis bullosa. Two homotrimeric forms of type XVII collagen exist. The full length form is the transmembrane protein. A soluble form, referred to as either ectodomain or LAD-1, is generated by proteolytic processing of the full length form.