Loricrin

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LOR
Identifiers
Aliases LOR, loricrin
External IDs GeneCards: LOR
Gene location (Human)
Chromosome 1 (human)
Chr. Chromosome 1 (human)[1]
Chromosome 1 (human)
Genomic location for LOR
Genomic location for LOR
Band 1q21.3 Start 153,259,700 bp[1]
End 153,262,122 bp[1]
RNA expression pattern
PBB GE LOR 207720 at fs.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
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

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

Function[edit]

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[edit]

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

See also[edit]

References[edit]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000203782 - Ensembl, May 2017
  2. ^ "Human PubMed Reference:". 
  3. ^ Hohl D, Mehrel T, Lichti U, Turner ML, Roop DR, Steinert PM (May 1991). "Characterization of human loricrin. Structure and function of a new class of epidermal cell envelope proteins". J Biol Chem. 266 (10): 6626–36. PMID 2007607. 
  4. ^ Yoneda K, Hohl D, McBride OW, Wang M, Cehrs KU, Idler WW, Steinert PM (Oct 1992). "The human loricrin gene". J Biol Chem. 267 (25): 18060–6. PMID 1355480. 
  5. ^ a b "Entrez Gene: LOR loricrin". 
  6. ^ Hohl D, Ruf Olano B, de Viragh PA, Huber M, Detrisac CJ, Schnyder UW, Roop DR (1993). "Expression patterns of loricrin in various species and tissues". Differentiation. 54 (1): 25–34. doi:10.1111/j.1432-0436.1993.tb01585.x. PMID 8405772. 

Further reading[edit]