Gene Symbol | LORICRIN |
Entrez Gene ID | 4014 |
Full Name | loricrin |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes loricrin, 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. [provided by RefSeq, Jul 2008]. |
Disorder MIM: | |
Disorder Html: | Vohwinkel syndrome with ichthyosis, 604117 (3) |