This gene encodes loricrin, a major protein component of the cornified cell envelope found in terminally differentiated epidermal cells. Mutations in this gene are associated with Vohwinkel's syndrome and progressive symmetric erythrokeratoderma, both inherited skin diseases. [provided by RefSeq, Jul 2008]
产品应用
应用
已检合格种属
预测种属
推荐稀释比例
IHC-P
Human
Mouse, Rat, Horse
1:100-500
IHC-F
Human
Mouse, Rat, Horse
1:100-500
IF
Human
Mouse, Rat, Horse
1:100-500
交叉反应
交叉反应: Human (predicted: Mouse, Rat, Horse)
相关产品
暂无相关产品
靶标
基因名
LORICRIN
蛋白名
Loricrin
亚细胞定位
Cytoplasm. Nucleus;nucleoplasm.
翻译后修饰
Substrate of transglutaminases. Some glutamines and lysines are cross-linked to other loricrin molecules and to SPRRs proteins.
Contains inter- or intramolecular disulfide-bonds.
疾病
Defects in LOR are a cause of progressive symmetric erythrokeratodermia (PSEK) [MIM:133200]. Erythrokeratodermas are a group of disorders characterized by widespread erythematous plaques, either stationary or migratory, associated with features that include palmoplantar keratoderma. PSEK is characterized by erythematous and hyperkeratotic plaques.
Defects in LOR are the cause of Vohwinkel syndrome with ichthyosis (VSI) [MIM:604117]; also known as loricrin keratoderma (LK) or mutilating keratoderma with ichthyosis. VSI is an ichthyotic variant of Vohwinkel syndrome (VS) characterized by progressive symmetric erythrokeratoderma or congenital ichthyosiform erythroderma born as a collodion baby. Common clinical features include hyperkeratosis of the palms and soles with digital constriction.