Loricrin is a
protein
Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residue (biochemistry), residues. Proteins perform a vast array of functions within organisms, including Enzyme catalysis, catalysing metab ...
that in humans is encoded by the ''LOR''
gene
In biology, the word gene has two meanings. The Mendelian gene is a basic unit of heredity. The molecular gene is a sequence of nucleotides in DNA that is transcribed to produce a functional RNA. There are two types of molecular genes: protei ...
.
Function
Loricrin is a major protein component of the
cornified cell envelope found in terminally differentiated
epidermal
The epidermis is the outermost of the three layers that comprise the skin, the inner layers being the dermis and hypodermis. The epidermal layer provides a barrier to infection from environmental pathogens and regulates the amount of water relea ...
cells.
Loricrin is expressed in the granular layer of all keratinized epithelial cells of mammals tested including oral, esophageal and stomach mucosa of rodents, tracheal squamous metaplasia of vitamin A deficient hamster and estrogen induced squamous
vaginal epithelium
The vaginal epithelium is the inner lining of the vagina consisting of multiple layers of (Epithelium, squamous) cells. The basal membrane provides the support for the first layer of the epithelium-the basal layer. The intermediate layers lie u ...
of rats.
Clinical significance
Mutations in the LOR gene are associated with
Vohwinkel's syndrome and
Camisa disease
Camisa disease is the variant form of Vohwinkel syndrome, characterized by ichthyosis and normal hearing.Freedberg, et al. (2003). ''Fitzpatrick's Dermatology in General Medicine''. (6th ed.). McGraw-Hill. .
It is associated with loricrin.
It was ...
, both inherited skin diseases.
See also
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List of cutaneous conditions caused by mutations in keratins
There are many different keratin proteins normally expressed in the human integumentary system. Mutations in keratin proteins in the skin can cause disease.
Of note, other structural proteins in the epidermis of the skin that are closely re ...
References
Further reading
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Structural proteins
Cytoskeleton
Skin