Loricrin

Loricrin is a protein that in humans is encoded by the LOR gene.^[3][4][5]

LORICRIN
Identifiers
Aliases	LORICRIN, loricrin, LOR, loricrin cornified envelope precursor protein
External IDs	OMIM: 152445; GeneCards: LORICRIN; OMA:LORICRIN - orthologs
Gene location (Human) Chr. Chromosome 1 (human)[1] Band 1q21.3 Start 153,259,687 bp[1] End 153,262,124 bp[1]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in skin of arm skin of thigh nipple vulva human penis skin of hip skin of abdomen gums gingival epithelium amniotic fluid n/a More reference expression data BioGPS More reference expression data
Gene ontology Molecular function protein-macromolecule adaptor activity structural constituent of cytoskeleton protein binding structural molecule activity structural constituent of skin epidermis Cellular component cytoplasm nucleoplasm nucleus cornified envelope cytosol Biological process peptide cross-linking keratinization keratinocyte differentiation cytoskeleton organization cornification Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 4014 n/a Ensembl ENSG00000203782 n/a UniProt P23490 n/a RefSeq (mRNA) NM_000427 n/a RefSeq (protein) NP_000418 n/a Location (UCSC) Chr 1: 153.26 – 153.26 Mb n/a PubMed search [2] n/a
Wikidata
View/Edit Human

Function

Loricrin is a major protein component of the cornified cell envelope found in terminally differentiated epidermal cells.^[5]

Loricrin is expressed in the granular layer of all keratinized epithelial cells of mammals tested including oral, esophageal and stomach mucosa of rodents, tracheal squamous metaplasia of vitamin A deficient hamster and estrogen induced squamous vaginal epithelium of rats.^[6]

Clinical significance

Mutations in the LOR gene are associated with Vohwinkel's syndrome and Camisa disease, both inherited skin diseases.

See also

• List of cutaneous conditions caused by mutations in keratins