LORICRIN (loricrin cornified envelope precursor protein)

2016-10-01  

Identity

HGNC
LOCATION
1q21.3
LOCUSID
ALIAS
LOR

Other Information

Locus ID:

NCBI: 4014
MIM: 152445
HGNC: 6663
Ensembl: ENSG00000203782

Variants:

dbSNP: 4014
ClinVar: 4014
TCGA: ENSG00000203782
COSMIC: LORICRIN

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000203782ENST00000368742P23490

Pathways

PathwaySourceExternal ID
Developmental BiologyREACTOMER-HSA-1266738
KeratinizationREACTOMER-HSA-6805567
Formation of the cornified envelopeREACTOMER-HSA-6809371

References

Pubmed IDYearTitleCitations
372984112023The Epidermal Transcriptome Analysis of a Novel c.639_642dup LORICRIN Variant-Delineation of the Loricrin Keratoderma Pathology.0
372984112023The Epidermal Transcriptome Analysis of a Novel c.639_642dup LORICRIN Variant-Delineation of the Loricrin Keratoderma Pathology.0
353465582022The c.323 G>C mutation in LORICRIN causes new-found late-onset autosomal dominant loricrin keratoderma in a Chinese Han Pedigree.1
353465582022The c.323 G>C mutation in LORICRIN causes new-found late-onset autosomal dominant loricrin keratoderma in a Chinese Han Pedigree.1
310567442020Epidermal autophagy and beclin 1 regulator 1 and loricrin: a paradigm shift in the prognostication and stratification of the American Joint Committee on Cancer stage I melanomas.9
327511112020Regulation of Filaggrin, Loricrin, and Involucrin by IL-4, IL-13, IL-17A, IL-22, AHR, and NRF2: Pathogenic Implications in Atopic Dermatitis.112
310567442020Epidermal autophagy and beclin 1 regulator 1 and loricrin: a paradigm shift in the prognostication and stratification of the American Joint Committee on Cancer stage I melanomas.9
327511112020Regulation of Filaggrin, Loricrin, and Involucrin by IL-4, IL-13, IL-17A, IL-22, AHR, and NRF2: Pathogenic Implications in Atopic Dermatitis.112
313221962019Effect of S100A8 and S100A9 on expressions of cytokine and skin barrier protein in human keratinocytes.20
313221962019Effect of S100A8 and S100A9 on expressions of cytokine and skin barrier protein in human keratinocytes.20
251428402015A novel microdeletion in LOR causing autosomal dominant loricrin keratoderma.2
252347422015Two novel mutations in the LOR gene in three families with loricrin keratoderma.4
258962462015Barrier Function of the Repaired Skin Is Disrupted Following Arrest of Dicer in Keratinocytes.32
259658692015Novel autosomal dominant mutation in loricrin presenting as prominent ichthyosis.4
263815752015Knockdown of either filaggrin or loricrin increases the productions of interleukin (IL)-1α, IL-8, IL-18 and granulocyte macrophage colony-stimulating factor in stratified human keratinocytes.8

Citation

Dessen P

LORICRIN (loricrin cornified envelope precursor protein)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/56547/loricrin-(loricrin-cornified-envelope-precursor-protein)