Loricrin is a
protein
Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residues. Proteins perform a vast array of functions within organisms, including catalysing metabolic reactions, DNA replication, respon ...
that in humans is encoded by the ''LOR''
gene
In biology, the word gene (from , ; "... Wilhelm Johannsen coined the word gene to describe the Mendelian units of heredity..." meaning ''generation'' or ''birth'' or ''gender'') can have several different meanings. The Mendelian gene is a b ...
.
Function
Loricrin is a major protein component of the
cornified cell envelope found in terminally differentiated
epidermal 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 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 wa ...
, both inherited skin diseases.
See also
*
List of cutaneous conditions caused by mutations in keratins
References
Further reading
*
*
*
*
*
*
*
*
*
*
*
*
*
*
*
*
*
{{gene-1-stub
Structural proteins
Cytoskeleton
Skin