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Loricrin

From Wikipedia, the free encyclopedia
LORICRIN
Identifiers
AliasesLORICRIN, loricrin, LOR, loricrin cornified envelope precursor protein
External IDsOMIM: 152445; GeneCards: LORICRIN; OMA:LORICRIN - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_000427

n/a

RefSeq (protein)

NP_000418

n/a

Location (UCSC)Chr 1: 153.26 – 153.26 Mbn/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

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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

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

See also

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References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000203782Ensembl, May 2017
  2. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  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. doi:10.1016/S0021-9258(18)38163-8. 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. doi:10.1016/S0021-9258(19)37152-2. 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

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