LORICRIN Chromosome 1
Loricrin cornified envelope precursor protein
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What This Gene Does
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]
Gene Info
Gene Group
Cornified envelope precursor family
Locus Type
gene with protein product
Location
1q21.3
Ensembl
ENSG00000203782
Associated Conditions (2)
Loricrin keratoderma
Moyamoya angiopathy
Key Variants
RS1368248226
Conflicting classifications of pathogenicity
Health Risk
RS201890491
Conflicting classifications of pathogenicity
Health Risk
RS533773105
Conflicting classifications of pathogenicity
Health Risk
RS769886857
Conflicting classifications of pathogenicity
Health Risk
RS770195151
Conflicting classifications of pathogenicity
Loricrin keratoderma, Loricrin keratoderma
Health Risk
RS1344567623
Likely pathogenic
Loricrin keratoderma, Loricrin keratoderma
Health Risk
RS1571081028
Likely pathogenic
Health Risk
RS769843541
Likely pathogenic
Moyamoya angiopathy, Moyamoya angiopathy
Health Risk
RS888685157
Likely pathogenic
Loricrin keratoderma, Loricrin keratoderma
Health Risk
RS1553191394
Pathogenic
Health Risk
RS2526493515
Pathogenic
Loricrin keratoderma, Loricrin keratoderma
Health Risk
RS2526494253
Pathogenic
Loricrin keratoderma, Loricrin keratoderma
Health Risk
All Variants (13)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1368248226 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS201890491 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS533773105 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS769886857 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS770195151 | Health Risk | Conflicting classifications of pathogenicity | Loricrin keratoderma, Loricrin keratoderma |
| RS1344567623 | Health Risk | Likely pathogenic | Loricrin keratoderma, Loricrin keratoderma |
| RS1571081028 | Health Risk | Likely pathogenic | — |
| RS769843541 | Health Risk | Likely pathogenic | Moyamoya angiopathy, Moyamoya angiopathy |
| RS888685157 | Health Risk | Likely pathogenic | Loricrin keratoderma, Loricrin keratoderma |
| RS1553191394 | Health Risk | Pathogenic | — |
| RS2526493515 | Health Risk | Pathogenic | Loricrin keratoderma, Loricrin keratoderma |
| RS2526494253 | Health Risk | Pathogenic | Loricrin keratoderma, Loricrin keratoderma |
| RS886041212 | Health Risk | Pathogenic | Loricrin keratoderma, Loricrin keratoderma |