DSG4
Domain
Three calcium ions are usually bound at the interface of each cadherin domain and rigidify the connections, imparting a strong curvature to the full-length ectodomain.
Function
A component of desmosome cell-cell junctions which are required for positive regulation of cellular adhesion (By similarity). Coordinates the transition from proliferation to differentiation in hair follicle keratinocytes (By similarity). Plays a role in moderating lymphocyte migration to inflamed skin and maintaining homeostasis of the epidermal inflammatory response (By similarity).
Involvement in disease
Hypotrichosis 6
HYPT6
A condition characterized by the presence of less than the normal amount of hair and abnormal hair follicles and shafts, which are thin and atrophic. The disorder affects the trunk and extremities as well as the scalp, and the eyebrows and eyelashes may also be involved, whereas beard, pubic, and axillary hairs are largely spared. In addition, patients can develop hyperkeratotic follicular papules, erythema, and pruritus in affected areas. In some patients with congenital hypotrichosis, monilethrix-like hairs showing elliptical nodes have been observed. HYPT6 inheritance is autosomal recessive.
None
The disease is caused by variants affecting the gene represented in this entry.
Autoantibodies against DSG4 are found in patients with pemphigus vulgaris. Pemphigus vulgaris is a potentially lethal skin disease in which epidermal blisters occur as the result of the loss of cell-cell adhesion.
Tissue Specificity
In scalp follicles, present in the inner root sheath (IRS) and all layers of the matrix and precortex (at protein level) (PubMed:12705872, PubMed:26173648). Expressed in the brain, muscle, kidney, pancreas, spleen, thymus and weakly expressed in the lung, liver, heart and placenta (PubMed:12705872). Highly expressed in skin, testis and prostate; less in salivary gland (PubMed:12648213).
Cellular localization
- Cell membrane
- Single-pass type I membrane protein
- Cell junction
- Desmosome
- Colocalizes with JUP at desmosomes.
Alternative names
CDHF13, DSG4, Desmoglein-4, Cadherin family member 13