Loricrin (LOR) ELISA Kit for Human

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]

LOR: Major keratinocyte cell envelope protein. Defects in LOR are a cause of progressive symmetric erythrokeratodermia (PSEK). 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); 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.

Chromosomal Location of Human Ortholog: 1q21

Cellular Component: nucleoplasm; cytoplasm; cornified envelope

Molecular Function: protein binding, bridging; protein binding; structural constituent of cytoskeleton; structural molecule activity

Biological Process: keratinocyte differentiation; keratinization; peptide cross-linking

Disease: Vohwinkel Syndrome, Variant Form