LORICRIN
Function
Major keratinocyte cell envelope protein.
Involvement in disease
Vohwinkel syndrome with ichthyosis
VSI
A variant form of Vohwinkel syndrome without hearing loss and associated with ichthyosiform dermatosis. Clinical features include palmoplantar keratoderma, pseudoainhum and ichthyosis. Compact hyperkeratosis with round retained nuclei and hypergranulosis is observed on skin biopsies.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
Substrate of transglutaminases. Some glutamines and lysines are cross-linked to other loricrin molecules and to SPRRs proteins.
Contains inter- or intramolecular disulfide-bonds.
Cellular localization
- Cytoplasm
- Nucleus
- Nucleoplasm
Alternative names
LOR, LRN, LORICRIN, Loricrin