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DSC3

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.
Protein class

Disease related genes, Human disease related genes, Plasma proteins

Predicted location

Membrane

Single cell type specificity

Group enriched (Suprabasal keratinocytes, Basal keratinocytes, Squamous epithelial cells, Basal squamous epithelial cells)

Immune cell specificity

Not detected in immune cells

Cell line specificity

Cell line enhanced (HaCaT, HBEC3-KT, hTCEpi, hTERT-HME1, REH)

More Types Infomation

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For Research Use Only. Not For Clinical Use.

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