Loricrin (LOR LRN)
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Function
- major keratinocyte cell envelope protein
- substrate of transglutaminases
- some Gln & Lys are cross-linked to other loricrin molecules & to SPRRs proteins
- contains inter- or intramolecular disulfide-bonds (probable)
Compartment
cytoplasm. nucleus, nucleoplasm
Pathology
- defects in LOR are a cause of progressive symmetric erythrokeratodermia
- defects in LOR are the cause of Vohwinkel syndrome with ichthyosis
More general terms
References
Database
- UniProt: http://www.uniprot.org/uniprot/P23490.html
- Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=4014
- Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:4014
- OMIM: https://mirror.omim.org/entry/152445
- OMIM: https://mirror.omim.org/entry/602036
- OMIM: https://mirror.omim.org/entry/604117