LOR
MIM.152445 1q21
Loricrin (LOR), with involucrin (IVL) (MIM.147360), is a major component of the crosslinked cell envelope of the epidermis, otherwise known as cornified cell envelope (CE), marginal, or peripheral band.
Pathology
germline mutations in
- Vohwinkel syndrome and ichthyosis (MIM.604117)
- progressive symmetric erythrokeratodermia (PSEK) (MIM.602036)
See also
cornified envelope proteins
References
Backendorf, C.; Hohl, D. : A common origin for cornified envelope proteins? (Letter) Nature Genet. 2: 91, 1992. PubMed ID : #1303269#