Loricrin

Loricrin

Identifiers

LOR ; MGC111513

External IDs

OMIM: 152445 MGI: 96816 HomoloGene: 68056 GeneCards: LOR Gene

Gene ontology
Molecular function	• structural molecule activity • structural constituent of cytoskeleton • protein binding • structural constituent of epidermis • protein binding, bridging
Cellular component	• cornified envelope • nucleoplasm • cytoplasm • internal side of plasma membrane
Biological process	• peptide cross-linking • keratinocyte differentiation • keratinization
Sources: Amigo / QuickGO

RNA expression pattern

More reference expression data

Orthologs

Species

Human

Mouse

ENSG00000203782

ENSMUSG00000043165

RefSeq (mRNA)

RefSeq (protein)

Location (UCSC)

Chr 1:
153.23 – 153.23 Mb

Chr 3:
92.08 – 92.08 Mb

PubMed search

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]

Clinical significance

Mutations in the LOR gene are associated with Vohwinkel's syndrome and progressive symmetric erythrokeratoderma, both inherited skin diseases.^[3]

See also

List of cutaneous conditions caused by mutations in keratins

References

↑ 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.
↑ 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.
↑ 3.0 3.1 3.2 "Entrez Gene: LOR loricrin".

Further reading

Ishida-Yamamoto A, Takahashi H, Iizuka H (1998). "Loricrin and human skin diseases: molecular basis of loricrin keratodermas.". Histol. Histopathol. 13 (3): 819–26. 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.
Candi E, Melino G, Mei G et al. (1995). "Biochemical, structural, and transglutaminase substrate properties of human loricrin, the major epidermal cornified cell envelope protein.". J. Biol. Chem. 270 (44): 26382–90. doi:10.1074/jbc.270.44.26382. PMID 7592852.
Yoneda K, Steinert PM (1993). "Overexpression of human loricrin in transgenic mice produces a normal phenotype.". Proc. Natl. Acad. Sci. U.S.A. 90 (22): 10754–8. doi:10.1073/pnas.90.22.10754. PMC 47856. PMID 8248167.
Ishida-Yamamoto A, Hohl D, Roop DR et al. (1994). "Loricrin immunoreactivity in human skin: localization to specific granules (L-granules) in acrosyringia.". Arch. Dermatol. Res. 285 (8): 491–8. doi:10.1007/BF00376822. PMID 8274037.
Maestrini E, Monaco AP, McGrath JA et al. (1996). "A molecular defect in loricrin, the major component of the cornified cell envelope, underlies Vohwinkel's syndrome.". Nat. Genet. 13 (1): 70–7. doi:10.1038/ng0596-70. PMID 8673107.
Steinert PM, Marekov LN (1997). "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. doi:10.1074/jbc.272.3.2021. PMID 8999895.
Ishida-Yamamoto A, McGrath JA, Lam H et al. (1997). "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. doi:10.1086/515518. PMC 1715943. PMID 9326323.
Korge BP, Ishida-Yamamoto A, Pünter C et al. (1997). "Loricrin mutation in Vohwinkel's keratoderma is unique to the variant with ichthyosis.". J. Invest. Dermatol. 109 (4): 604–10. doi:10.1111/1523-1747.ep12337534. PMID 9326398.
Candi E, Tarcsa E, Idler WW et al. (1999). "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. doi:10.1074/jbc.274.11.7226. PMID 10066784.
Richard G, Brown N, Smith LE et al. (2000). "The spectrum of mutations in erythrokeratodermias--novel and de novo mutations in GJB3.". Hum. Genet. 106 (3): 321–9. doi:10.1007/s004390051045. PMID 10798362.
Lee CH, Marekov LN, Kim S et al. (2000). "Small proline-rich protein 1 is the major component of the cell envelope of normal human oral keratinocytes.". FEBS Lett. 477 (3): 268–72. doi:10.1016/S0014-5793(00)01806-8. PMID 10908733.
Candi E, Oddi S, Terrinoni A et al. (2001). "Transglutaminase 5 cross-links loricrin, involucrin, and small proline-rich proteins in vitro.". J. Biol. Chem. 276 (37): 35014–23. doi:10.1074/jbc.M010157200. PMID 11443109.
Matsumoto K, Muto M, Seki S et al. (2001). "Loricrin keratoderma: a cause of congenital ichthyosiform erythroderma and collodion baby.". Br. J. Dermatol. 145 (4): 657–60. doi:10.1046/j.1365-2133.2001.04412.x. PMID 11703298.
O'Driscoll J, Muston GC, McGrath JA et al. (2002). "A recurrent mutation in the loricrin gene underlies the ichthyotic variant of Vohwinkel syndrome.". Clin. Exp. Dermatol. 27 (3): 243–6. doi:10.1046/j.1365-2230.2002.01031.x. PMID 12072018.
Jang SI, Steinert PM (2003). "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. doi:10.1074/jbc.M205593200. PMID 12200429.
Strausberg RL, Feingold EA, Grouse LH et al. (2003). "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. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.