Aliases for COL17A1 Gene
External Ids for COL17A1 Gene
Previous HGNC Symbols for COL17A1 Gene
Previous GeneCards Identifiers for COL17A1 Gene
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. [provided by RefSeq, Jul 2008]
GeneCards Summary for COL17A1 Gene
COL17A1 (Collagen Type XVII Alpha 1 Chain) is a Protein Coding gene. Diseases associated with COL17A1 include Epithelial Recurrent Erosion Dystrophy and Epidermolysis Bullosa, Junctional, Non-Herlitz Type. Among its related pathways are Cell junction organization and Degradation of the extracellular matrix. An important paralog of this gene is COL5A1.
UniProtKB/Swiss-Prot Summary for COL17A1 Gene
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.