NCBI and Uniprot Product Information
NCBI Description
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]
Uniprot Description
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
Research Articles on LOR
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Product Notes
The Human LOR lor (Catalog #AAA918132) is an ELISA Kit and is intended for research purposes only. The product is available for immediate purchase. The AAA918132 ELISA Kit recognizes Human LOR. It is sometimes possible for the material contained within the vial of "loricrin, ELISA Kit" to become dispersed throughout the inside of the vial, particularly around the seal of said vial, during shipment and storage. We always suggest centrifuging these vials to consolidate all of the liquid away from the lid and to the bottom of the vial prior to opening. Please be advised that certain products may require dry ice for shipping and that, if this is the case, an additional dry ice fee may also be required.Precautions
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