Loricrin Explained

Loricrin is a protein that in humans is encoded by the LOR gene.^{[1] [2] [3]}

Function

Loricrin is a major protein component of the cornified cell envelope found in terminally differentiated epidermal cells.^[3]

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.^[4]

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

References

Further reading

• Ishida-Yamamoto A, Takahashi H, Iizuka H . Loricrin and human skin diseases: molecular basis of loricrin keratodermas. . Histol. Histopathol. . 13 . 3 . 819–26 . 1998 . 9690138 .
• Ishida-Yamamoto A . Loricrin keratoderma: a novel disease entity characterized by nuclear accumulation of mutant loricrin. . J. Dermatol. Sci. . 31 . 1 . 3–8 . 2003 . 12615358 . 10.1016/S0923-1811(02)00143-3 .
• Candi E, Melino G, Mei G, etal . Biochemical, structural, and transglutaminase substrate properties of human loricrin, the major epidermal cornified cell envelope protein. . J. Biol. Chem. . 270 . 44 . 26382–90 . 1995 . 7592852 . 10.1074/jbc.270.44.26382 . free .
• Yoneda K, Steinert PM . Overexpression of human loricrin in transgenic mice produces a normal phenotype. . Proc. Natl. Acad. Sci. U.S.A. . 90 . 22 . 10754–8 . 1993 . 8248167 . 10.1073/pnas.90.22.10754 . 47856 . 1993PNAS...9010754Y . free .
• Ishida-Yamamoto A, Hohl D, Roop DR, etal . Loricrin immunoreactivity in human skin: localization to specific granules (L-granules) in acrosyringia. . Arch. Dermatol. Res. . 285 . 8 . 491–8 . 1994 . 8274037 . 10.1007/BF00376822 . 9857068 .
• Maestrini E, Monaco AP, McGrath JA, etal . A molecular defect in loricrin, the major component of the cornified cell envelope, underlies Vohwinkel's syndrome. . Nat. Genet. . 13 . 1 . 70–7 . 1996 . 8673107 . 10.1038/ng0596-70 . 9108586 .
• Steinert PM, Marekov LN . Direct evidence that involucrin is a major early isopeptide cross-linked component of the keratinocyte cornified cell envelope. . J. Biol. Chem. . 272 . 3 . 2021–30 . 1997 . 8999895 . 10.1074/jbc.272.3.2021 . free .
• Ishida-Yamamoto A, McGrath JA, Lam H, etal . The molecular pathology of progressive symmetric erythrokeratoderma: a frameshift mutation in the loricrin gene and perturbations in the cornified cell envelope. . Am. J. Hum. Genet. . 61 . 3 . 581–9 . 1997 . 9326323 . 10.1086/515518 . 1715943 .
• Korge BP, Ishida-Yamamoto A, Pünter C, etal . Loricrin mutation in Vohwinkel's keratoderma is unique to the variant with ichthyosis. . J. Invest. Dermatol. . 109 . 4 . 604–10 . 1997 . 9326398 . 10.1111/1523-1747.ep12337534 . free .
• Candi E, Tarcsa E, Idler WW, etal . Transglutaminase cross-linking properties of the small proline-rich 1 family of cornified cell envelope proteins. Integration with loricrin. . J. Biol. Chem. . 274 . 11 . 7226–37 . 1999 . 10066784 . 10.1074/jbc.274.11.7226 . free .
• Richard G, Brown N, Smith LE, etal . The spectrum of mutations in erythrokeratodermias--novel and de novo mutations in GJB3. . Hum. Genet. . 106 . 3 . 321–9 . 2000 . 10798362 . 10.1007/s004390051045 . 2024-02-22 .
• Lee CH, Marekov LN, Kim S, etal . Small proline-rich protein 1 is the major component of the cell envelope of normal human oral keratinocytes. . FEBS Lett. . 477 . 3 . 268–72 . 2000 . 10908733 . 10.1016/S0014-5793(00)01806-8 . 12228606 . free .
• Candi E, Oddi S, Terrinoni A, etal . Transglutaminase 5 cross-links loricrin, involucrin, and small proline-rich proteins in vitro. . J. Biol. Chem. . 276 . 37 . 35014–23 . 2001 . 11443109 . 10.1074/jbc.M010157200 . free .
• Matsumoto K, Muto M, Seki S, etal . Loricrin keratoderma: a cause of congenital ichthyosiform erythroderma and collodion baby. . Br. J. Dermatol. . 145 . 4 . 657–60 . 2001 . 11703298 . 10.1046/j.1365-2133.2001.04412.x . 32827034 .
• O'Driscoll J, Muston GC, McGrath JA, etal . A recurrent mutation in the loricrin gene underlies the ichthyotic variant of Vohwinkel syndrome. . Clin. Exp. Dermatol. . 27 . 3 . 243–6 . 2002 . 12072018 . 10.1046/j.1365-2230.2002.01031.x . 44453747 .
• Jang SI, Steinert PM . Loricrin expression in cultured human keratinocytes is controlled by a complex interplay between transcription factors of the Sp1, CREB, AP1, and AP2 families. . J. Biol. Chem. . 277 . 44 . 42268–79 . 2003 . 12200429 . 10.1074/jbc.M205593200 . free .
• Strausberg RL, Feingold EA, Grouse LH, etal . Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. . Proc. Natl. Acad. Sci. U.S.A. . 99 . 26 . 16899–903 . 2003 . 12477932 . 10.1073/pnas.242603899 . 139241 . 2002PNAS...9916899M . free .

Notes and References

1. Hohl D, Mehrel T, Lichti U, Turner ML, Roop DR, Steinert PM . Characterization of human loricrin. Structure and function of a new class of epidermal cell envelope proteins . J Biol Chem . 266 . 10 . 6626–36 . May 1991 . 10.1016/S0021-9258(18)38163-8 . 2007607 . free .
2. Yoneda K, Hohl D, McBride OW, Wang M, Cehrs KU, Idler WW, Steinert PM . The human loricrin gene . J Biol Chem . 267 . 25 . 18060–6 . Oct 1992 . 10.1016/S0021-9258(19)37152-2 . 1355480 . free .
3. Web site: Entrez Gene: LOR loricrin.
4. Hohl D, Ruf Olano B, de Viragh PA, Huber M, Detrisac CJ, Schnyder UW, Roop DR . Expression patterns of loricrin in various species and tissues . Differentiation . 54 . 1 . 25–34 . 1993 . 8405772 . 10.1111/j.1432-0436.1993.tb01585.x.