Biology:Loricrin
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Short description: Protein-coding gene in the species Homo sapiens
 Generic protein structure example |
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
- ↑ "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. doi:10.1016/S0021-9258(18)38163-8. PMID 2007607.
- ↑ "The human loricrin gene". J Biol Chem 267 (25): 18060–6. Oct 1992. doi:10.1016/S0021-9258(19)37152-2. PMID 1355480.
- ↑ 3.0 3.1 "Entrez Gene: LOR loricrin". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=4014.
- ↑ "Expression patterns of loricrin in various species and tissues". Differentiation 54 (1): 25–34. 1993. doi:10.1111/j.1432-0436.1993.tb01585.x. PMID 8405772.
Further reading
- "Loricrin and human skin diseases: molecular basis of loricrin keratodermas.". Histol. Histopathol. 13 (3): 819–26. 1998. PMID 9690138.
- Ishida-Yamamoto A (2003). "Loricrin keratoderma: a novel disease entity characterized by nuclear accumulation of mutant loricrin.". J. Dermatol. Sci. 31 (1): 3–8. doi:10.1016/S0923-1811(02)00143-3. PMID 12615358.
- "Biochemical, structural, and transglutaminase substrate properties of human loricrin, the major epidermal cornified cell envelope protein.". J. Biol. Chem. 270 (44): 26382–90. 1995. doi:10.1074/jbc.270.44.26382. PMID 7592852. https://www.openaccessrepository.it/record/93359/files/fulltext.pdf.
- "Overexpression of human loricrin in transgenic mice produces a normal phenotype.". Proc. Natl. Acad. Sci. U.S.A. 90 (22): 10754–8. 1993. doi:10.1073/pnas.90.22.10754. PMID 8248167. Bibcode: 1993PNAS...9010754Y.
- "Loricrin immunoreactivity in human skin: localization to specific granules (L-granules) in acrosyringia.". Arch. Dermatol. Res. 285 (8): 491–8. 1994. doi:10.1007/BF00376822. PMID 8274037.
- "A molecular defect in loricrin, the major component of the cornified cell envelope, underlies Vohwinkel's syndrome.". Nat. Genet. 13 (1): 70–7. 1996. doi:10.1038/ng0596-70. PMID 8673107.
- "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. doi:10.1074/jbc.272.3.2021. PMID 8999895.
- "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. doi:10.1086/515518. PMID 9326323.
- "Loricrin mutation in Vohwinkel's keratoderma is unique to the variant with ichthyosis.". J. Invest. Dermatol. 109 (4): 604–10. 1997. doi:10.1111/1523-1747.ep12337534. PMID 9326398.
- "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. doi:10.1074/jbc.274.11.7226. PMID 10066784.
- "The spectrum of mutations in erythrokeratodermias--novel and de novo mutations in GJB3.". Hum. Genet. 106 (3): 321–9. 2000. doi:10.1007/s004390051045. PMID 10798362.
- "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. doi:10.1016/S0014-5793(00)01806-8. PMID 10908733.
- "Transglutaminase 5 cross-links loricrin, involucrin, and small proline-rich proteins in vitro.". J. Biol. Chem. 276 (37): 35014–23. 2001. doi:10.1074/jbc.M010157200. PMID 11443109.
- "Loricrin keratoderma: a cause of congenital ichthyosiform erythroderma and collodion baby.". Br. J. Dermatol. 145 (4): 657–60. 2001. doi:10.1046/j.1365-2133.2001.04412.x. PMID 11703298.
- "A recurrent mutation in the loricrin gene underlies the ichthyotic variant of Vohwinkel syndrome.". Clin. Exp. Dermatol. 27 (3): 243–6. 2002. doi:10.1046/j.1365-2230.2002.01031.x. PMID 12072018.
- "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. doi:10.1074/jbc.M205593200. PMID 12200429.
- "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. doi:10.1073/pnas.242603899. PMID 12477932. Bibcode: 2002PNAS...9916899M.
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