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LOR loricrin

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]

Associated conditions

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DescriptionTests
Vohwinkel syndrome, variant form
MedGen: C1858805OMIM: 604117GeneReviews: Not available
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Genomic context

Location:
1q21.3
Sequence:
Chromosome: 1; NC_000001.11 (153259703..153262124)
Total number of exons:
2

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