NP_000418.2
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
25,761 Da
NCBI Official Full Name
loricrin
NCBI Official Synonym Full Names
loricrin
NCBI Protein Information
loricrin
UniProt Protein Name
Loricrin
UniProt Synonym Gene Names
UniProt Entry Name
LORI_HUMAN
NCBI Summary for LOR
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 Comments for LOR
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
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Products associated with LOR elisa kit
Diseases associated with LOR elisa kit
Organs/Tissues associated with LOR elisa kit
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