Biochem/physiol Actions

Mutations in the gene LOR, leads to an autosomal dominant genodermatosis called loricrin keratoderma. The disease is characterized by palmoplantar keratoderma and ichthyosis. Variation in the gene also results in Vohwinkel syndrome with ichthyosis and progressive symmetrical erythrokeratodermia, an inherited cornification disorder.

LOR is 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.LOR encodes loricrin, a major protein component of the cornified cell envelope found in terminally differentiated epidermal cells. Mutations in LOR may be the cause of both Vohwinkel′s syndrome and progressive symmetric erythrokeratoderma, both inherited skin diseases.

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General description

The LOR gene codes for a a small basic protein, loricrin. It is predominantly localized to the cornified cell envelope.

Immunogen

Synthetic peptide directed towards the N terminal region of human LOR

Physical form

Purified antibody supplied in 1x PBS buffer with 0.09% (w/v) sodium azide and 2% sucrose.

Sequence

Synthetic peptide located within the following region: GYSGGGCGGGSSGGGGGGGIGGCGGGSGGSVKYSGGGGSSGGGSGCFSSG