LOR

Loricrin is 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.

Full Name

Loricrin

Function

Major keratinocyte cell envelope protein.

Biological Process

KeratinizationIEA:UniProtKB-KW
Keratinocyte differentiationManual Assertion Based On ExperimentIDA:UniProtKB
Peptide cross-linkingManual Assertion Based On ExperimentIDA:UniProtKB

Cellular Location

Cytoplasm
Nucleus, nucleoplasm

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.

PTM

Substrate of transglutaminases. Some glutamines and lysines are cross-linked to other loricrin molecules and to SPRRs proteins.
Contains inter- or intramolecular disulfide-bonds.