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. Alternative splicing results in two transcript variants encoding distinct isoforms. [provided by RefSeq]

Full Name

desmocollin 3

Research Area

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.

Biological Process

Cell adhesion Source: ProtInc
Cell-cell adhesion Source: GO_Central
Homophilic cell adhesion via plasma membrane adhesion molecules Source: InterPro
Protein stabilization Source: BHF-UCL

Cellular Location

Cell membrane; Desmosome

Involvement in disease

Hypotrichosis and recurrent skin vesicles (HRSV):
A disorder characterized by hypotrichosis and the appearance of recurrent skin vesicle formation. Affected individuals show sparse and fragile hair on scalp, as well as absent eyebrows and eyelashes. Vesicles filled with thin, watery fluid are observed on the scalp and skin of most of the body. Mucosal vesicles are absent.

Topology

Extracellular: 136-690
Helical: 691-711
Cytoplasmic: 712-896