Recombinant Human Desmocollin-3 (DSC3), Truncated

Uniprot Id

Q14574

Target Species

Human

Target Name

DSC3

Target Full Name

Desmocollin-3

Target Function

Component of intercellular desmosome junctions. Involved in the interaction of plaque proteins and intermediate filaments mediating cell-cell adhesion. May contribute to epidermal cell positioning (stratification) by mediating differential adhesiveness between cells that express different isoforms.

Target Involvement

Hypotrichosis and recurrent skin vesicles (HRSV)

Target Subcellular Location

Cell membrane; Single-pass type I membrane protein. Cell junction, desmosome.

Target Tissue Specificity

Epidermis, buccal mucosa, esophagus and cervix.

Target Synonyms

Cadherin family member 3; CDHF3; desmocollin 3a/3b; Desmocollin 4; Desmocollin-3; Desmocollin-4; Desmocollin3; Desmocollin4; DSC; DSC1; DSC2; DSC3; DSC3_HUMAN; DSC4; HT CP; HT-CP; HTCP

Target Background

The protein encoded by this gene is a calcium-dependent glycoprotein that is a member of the desmocollin subfamily of the cadherin superfamily. These desmosomal family members, along with the desmogleins, are found primarily in epithelial cells where they constitute the adhesive proteins of the desmosome cell-cell junction and are required for cell adhesion and desmosome formation. The desmosomal family members are arranged in two clusters on chromosome 18, occupying less than 650 kb combined. Mutations in this gene are a cause of hypotrichosis and recurrent skin vesicles disorder. The protein can act as an autoantigen in pemphigus diseases, and it is also considered to be a biomarker for some cancers. Alternative splicing of this gene results in multiple transcript variants.