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
Biochem/physiol Actions
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.
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.
Sequence
Synthetic peptide located within the following region: GYSGGGCGGGSSGGGGGGGIGGCGGGSGGSVKYSGGGGSSGGGSGCFSSG
Physical form
Purified antibody supplied in 1x PBS buffer with 0.09% (w/v) sodium azide and 2% sucrose.
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The lingual mucosa in birds is covered with two specific types of multilayered epithelia, i.e., the para- and orthokeratinized epithelium, that differ structurally and functionally. Comprehensive information on proteins synthesized in keratinocyte during their cytodifferentiation in subsequent layers of multilayered
Novel autosomal dominant mutation in loricrin presenting as prominent ichthyosis.
Pohler E, et al.
British Journal of Dermatology, 173(5), 1291-1294 (2015)
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