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
181664992008Loricrin and involucrin expression is down-regulated by Th2 cytokines through STAT-6.92
122004292002Loricrin expression in cultured human keratinocytes is controlled by a complex interplay between transcription factors of the Sp1, CREB, AP1, and AP2 families.24
151020812004Structural and functional consequences of loricrin mutations in human loricrin keratoderma (Vohwinkel syndrome with ichthyosis).21
206348912010Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia.18
258962462015Barrier Function of the Repaired Skin Is Disrupted Following Arrest of Dicer in Keratinocytes.18
126153582003Loricrin keratoderma: a novel disease entity characterized by nuclear accumulation of mutant loricrin.12
201848652010Protein kinase C delta and eta differently regulate the expression of loricrin and Jun family proteins in human keratinocytes.10
196720942010Locus 1q21 Gene expression changes in atopic dermatitis skin lesions: deregulation of small proline-rich region 1A.7
212219832011mRNA-based skin identification for forensic applications.5
155982222004Characterization of the loricrin (LOR) gene as a positional candidate for the PSORS4 psoriasis susceptibility locus.4

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