機能Activates NF-kappa-B via BCL10 and IKK. Stimulates the phosphorylation of BCL10.
組織特異性Expressed in placenta. Also detected in HeLaS3 cell line, but not in the other cancer cell lines tested. Expressed in epidermal keratinocytes.
関連疾患Defects in CARD14 are the cause of susceptibility to psoriasis type 2 (PSORS2) [MIM:602723]. A common, chronic inflammatory disease of the skin with multifactorial etiology. It is characterized by red, scaly plaques usually found on the scalp, elbows and knees. These lesions are caused by abnormal keratinocyte proliferation and infiltration of inflammatory cells into the dermis and epidermis. Defects in CARD14 are the cause of pityriasis rubra pilaris (PRP) [MIM:173200]. A rare, papulosquamous skin disease characterized by the appearance of keratotic follicular papules, well-demarcated salmon-colored erythematous plaques covered with fine powdery scales interspersed with distinct islands of uninvolved skin, and palmoplantar keratoderma. Most cases are sporadic. The rare familial cases show autosomal dominant inheritance with incomplete penetrance and variable expression. Familial PRP usually presents at birth or appears during the first years of life and runs a chronic course. It is characterized by prominent follicular hyperkeratosis, diffuse palmoplantar keratoderma, and erythema.