# Loricrin
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{{Short description|Protein-coding gene in the species Homo sapiens}}
{{Infobox_gene}}
'''Loricrin''' is a [protein](/source/protein) that in humans is encoded by the ''LOR'' [gene](/source/gene).[{{cite journal |vauthors=Hohl D, Mehrel T, Lichti U, Turner ML, Roop DR, Steinert PM | title = Characterization of human loricrin. Structure and function of a new class of epidermal cell envelope proteins | journal = J Biol Chem | volume = 266 | issue = 10 | pages = 6626–36 |date=May 1991 | doi = 10.1016/S0021-9258(18)38163-8 | pmid = 2007607 | doi-access = free }}][{{cite journal |vauthors=Yoneda K, Hohl D, McBride OW, Wang M, Cehrs KU, Idler WW, Steinert PM | title = The human loricrin gene | journal = J Biol Chem | volume = 267 | issue = 25 | pages = 18060–6 |date=Oct 1992 | doi = 10.1016/S0021-9258(19)37152-2 | pmid = 1355480 | doi-access = free }}][{{cite web | title = Entrez Gene: LOR loricrin| url = https://www.ncbi.nlm.nih.gov/gene?Db=gene&Cmd=ShowDetailView&TermToSearch=4014}}]
== Function ==
Loricrin is a major protein component of the [cornified cell envelope](/source/stratum_corneum) found in terminally differentiated [epidermal](/source/epidermis_(skin)) cells.[{{cite journal |vauthors=Hohl D, Ruf Olano B, de Viragh PA, Huber M, Detrisac CJ, Schnyder UW, Roop DR |title=Expression patterns of loricrin in various species and tissues |journal=Differentiation |volume=54 |issue=1 |pages=25–34 |year=1993 |pmid=8405772 |doi=10.1111/j.1432-0436.1993.tb01585.x}}]
== Clinical significance ==
Mutations in the LOR gene are associated with [Vohwinkel's syndrome](/source/Vohwinkel's_syndrome) and [Camisa disease](/source/Camisa_disease), both inherited skin diseases.
== See also ==
* [List of cutaneous conditions caused by mutations in keratins](/source/List_of_cutaneous_conditions_caused_by_mutations_in_keratins)
==References==
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==Further reading==
{{refbegin | 2}}
*{{cite journal |vauthors=Ishida-Yamamoto A, Takahashi H, Iizuka H |title=Loricrin and human skin diseases: molecular basis of loricrin keratodermas. |journal=Histol. Histopathol. |volume=13 |issue= 3 |pages= 819–26 |year= 1998 |pmid= 9690138 }}
*{{cite journal | author=Ishida-Yamamoto A |title=Loricrin keratoderma: a novel disease entity characterized by nuclear accumulation of mutant loricrin. |journal=J. Dermatol. Sci. |volume=31 |issue= 1 |pages= 3–8 |year= 2003 |pmid= 12615358 |doi=10.1016/S0923-1811(02)00143-3 }}
*{{cite journal |vauthors=Candi E, Melino G, Mei G, etal |title=Biochemical, structural, and transglutaminase substrate properties of human loricrin, the major epidermal cornified cell envelope protein. |journal=J. Biol. Chem. |volume=270 |issue= 44 |pages= 26382–90 |year= 1995 |pmid= 7592852 |doi=10.1074/jbc.270.44.26382 |doi-access=free }}
*{{cite journal |vauthors=Yoneda K, Steinert PM |title=Overexpression of human loricrin in transgenic mice produces a normal phenotype. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=90 |issue= 22 |pages= 10754–8 |year= 1993 |pmid= 8248167 |doi=10.1073/pnas.90.22.10754 | pmc=47856 |bibcode=1993PNAS...9010754Y |doi-access=free }}
*{{cite journal |vauthors=Ishida-Yamamoto A, Hohl D, Roop DR, etal |title=Loricrin immunoreactivity in human skin: localization to specific granules (L-granules) in acrosyringia. |journal=Arch. Dermatol. Res. |volume=285 |issue= 8 |pages= 491–8 |year= 1994 |pmid= 8274037 |doi=10.1007/BF00376822 |s2cid=9857068 }}
*{{cite journal |vauthors=Maestrini E, Monaco AP, McGrath JA, etal |title=A molecular defect in loricrin, the major component of the cornified cell envelope, underlies Vohwinkel's syndrome. |journal=Nat. Genet. |volume=13 |issue= 1 |pages= 70–7 |year= 1996 |pmid= 8673107 |doi= 10.1038/ng0596-70 |s2cid=9108586 }}
*{{cite journal |vauthors=Steinert PM, Marekov LN |title=Direct evidence that involucrin is a major early isopeptide cross-linked component of the keratinocyte cornified cell envelope. |journal=J. Biol. Chem. |volume=272 |issue= 3 |pages= 2021–30 |year= 1997 |pmid= 8999895 |doi=10.1074/jbc.272.3.2021 |doi-access=free }}
*{{cite journal |vauthors=Ishida-Yamamoto A, McGrath JA, Lam H, etal |title=The molecular pathology of progressive symmetric erythrokeratoderma: a frameshift mutation in the loricrin gene and perturbations in the cornified cell envelope. |journal=Am. J. Hum. Genet. |volume=61 |issue= 3 |pages= 581–9 |year= 1997 |pmid= 9326323 |doi=10.1086/515518 | pmc=1715943 }}
*{{cite journal |vauthors=Korge BP, Ishida-Yamamoto A, Pünter C, etal |title=Loricrin mutation in Vohwinkel's keratoderma is unique to the variant with ichthyosis. |journal=J. Invest. Dermatol. |volume=109 |issue= 4 |pages= 604–10 |year= 1997 |pmid= 9326398 |doi=10.1111/1523-1747.ep12337534 |doi-access=free }}
*{{cite journal |vauthors=Candi E, Tarcsa E, Idler WW, etal |title=Transglutaminase cross-linking properties of the small proline-rich 1 family of cornified cell envelope proteins. Integration with loricrin. |journal=J. Biol. Chem. |volume=274 |issue= 11 |pages= 7226–37 |year= 1999 |pmid= 10066784 |doi=10.1074/jbc.274.11.7226 |doi-access=free }}
*{{cite journal |vauthors=Richard G, Brown N, Smith LE, etal |title=The spectrum of mutations in erythrokeratodermias--novel and de novo mutations in GJB3. |journal=Hum. Genet. |volume=106 |issue= 3 |pages= 321–9 |year= 2000 |pmid= 10798362 |doi=10.1007/s004390051045 |doi-broken-date=12 July 2025 }}
*{{cite journal |vauthors=Lee CH, Marekov LN, Kim S, etal |title=Small proline-rich protein 1 is the major component of the cell envelope of normal human oral keratinocytes. |journal=FEBS Lett. |volume=477 |issue= 3 |pages= 268–72 |year= 2000 |pmid= 10908733 |doi=10.1016/S0014-5793(00)01806-8 |s2cid=12228606 |doi-access=free |bibcode=2000FEBSL.477..268L }}
*{{cite journal |vauthors=Candi E, Oddi S, Terrinoni A, etal |title=Transglutaminase 5 cross-links loricrin, involucrin, and small proline-rich proteins in vitro. |journal=J. Biol. Chem. |volume=276 |issue= 37 |pages= 35014–23 |year= 2001 |pmid= 11443109 |doi= 10.1074/jbc.M010157200 |doi-access=free }}
*{{cite journal |vauthors=Matsumoto K, Muto M, Seki S, etal |title=Loricrin keratoderma: a cause of congenital ichthyosiform erythroderma and collodion baby. |journal=Br. J. Dermatol. |volume=145 |issue= 4 |pages= 657–60 |year= 2001 |pmid= 11703298 |doi=10.1046/j.1365-2133.2001.04412.x |s2cid=32827034 }}
*{{cite journal |vauthors=O'Driscoll J, Muston GC, McGrath JA, etal |title=A recurrent mutation in the loricrin gene underlies the ichthyotic variant of Vohwinkel syndrome. |journal=Clin. Exp. Dermatol. |volume=27 |issue= 3 |pages= 243–6 |year= 2002 |pmid= 12072018 |doi=10.1046/j.1365-2230.2002.01031.x |s2cid=44453747 }}
*{{cite journal |vauthors=Jang SI, Steinert PM |title=Loricrin expression in cultured human keratinocytes is controlled by a complex interplay between transcription factors of the Sp1, CREB, AP1, and AP2 families. |journal=J. Biol. Chem. |volume=277 |issue= 44 |pages= 42268–79 |year= 2003 |pmid= 12200429 |doi= 10.1074/jbc.M205593200 |doi-access= free }}
*{{cite journal |vauthors=Strausberg RL, Feingold EA, Grouse LH, etal |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 | pmc=139241 |bibcode=2002PNAS...9916899M |doi-access=free }}
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Category:Structural proteins
Category:Cytoskeleton
Category:Skin
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Adapted from the Wikipedia article [Loricrin](https://en.wikipedia.org/wiki/Loricrin) by Wikipedia contributors ([contributor history](https://en.wikipedia.org/wiki/Loricrin?action=history)). Available under [Creative Commons Attribution-ShareAlike 4.0 International](https://creativecommons.org/licenses/by-sa/4.0/). Changes may have been made.