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LOR loricrin [Homo sapiens (human)]


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_000427 Homo sapiens loricrin (LOR), mRNA. GenEZ ORF Cloning On-demand TBD TBD

*Business Day

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Gene Symbol LOR
Entrez Gene ID 4014
Full Name loricrin
Synonyms
General protein information
Preferred Names
loricrin
Names
loricrin
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

1

1q21

Summary 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. [provided by RefSeq, Jul 2008].
Disorder

MIM: 152445

Vohwinkel syndrome with ichthyosis, 604117 (3)

mRNA Protein Product Sequence Price Select
NM_000427, 109255250 NP_000418, 109255251 loricrin ORF Sequence $300.00
Process
IDNameEvidence
GO:0018149peptide cross-linkingIDA
GO:0030216keratinocyte differentiationIDA
GO:0031424keratinizationIEA
Component
IDNameEvidence
GO:0001533cornified envelopeIDA
GO:0005654nucleoplasmIEA
GO:0005737cytoplasmIEA
Function
IDNameEvidence
GO:0005198structural molecule activityIDA
GO:0005200structural constituent of cytoskeletonTAS
GO:0005515protein bindingIPI
GO:0030674protein binding, bridgingIDA
GeneCards LOR
UniProt P23490
Vega OTTHUMG00000013938
MIM 152445
Ensembl ENSG00000203782
HGNC 6663
HPRD 01070

GeneRIFs: Gene References Into Functions What's a GeneRIF?

What is the normal function of the LOR gene?

The LOR gene is part of a cluster of genes on chromosome 1 called the epidermal differentiation complex. These genes are involved in the formation and maintenance of the outer layer of skin (the epidermis), particularly its tough outer surface (the stratum corneum). The stratum corneum, which is formed in a process known as cornification, provides a sturdy barrier between the body and its environment. Each cell of the stratum corneum, called a corneocyte, is surrounded by a protein shell called a cornified envelope.

The LOR gene provides instructions for making a protein called loricrin, which is a major component of the cornified envelope. Links between loricrin and other components of the envelopes hold the corneocytes together and help give the stratum corneum its strength.

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