LOR (gene)

From Wikipedia, the free encyclopedia

Loricrin

Identifiers

LOR; MGC111513

External IDs

OMIM: 152445 MGI: 96816 HomoloGene: 68056

Gene ontology
Molecular Function:	• structural constituent of cytoskeleton • structural constituent of epidermis • protein binding, bridging
Cellular Component:	• cornified envelope • insoluble fraction • internal side of plasma membrane
Biological Process:	• peptide cross-linking • keratinocyte differentiation • keratinization

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

Refseq

NM_000427 (mRNA)
NP_000418 (protein)

NM_008508 (mRNA)
NP_032534 (protein)

Location

Chr 1: 151.5 - 151.5 Mb

Chr 3: 92.17 - 92.17 Mb

Pubmed search

[1]

[2]

Loricrin, also known as LOR, is a human gene.^[1]

This gene encodes loricrin, a major protein component of the cornified cell envelope found in terminally differentiated epidermal cells. Mutations in this gene are associated with Vohwinkel's syndrome and progressive symmetric erythrokeratoderma, both inherited skin diseases.^[1]

[edit] References

^ ^a ^b Entrez Gene: LOR loricrin.

[edit] 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. PMID 12615358.
Yoneda K, Hohl D, McBride OW, et al. (1992). "The human loricrin gene.". J. Biol. Chem. 267 (25): 18060–6. PMID 1355480.
Hohl D, Mehrel T, Lichti U, et al. (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.
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. 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. 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. 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. 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. 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. 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. 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. 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. 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. 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. 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. PMID 12477932.