LORICRIN

Chr 1AD

loricrin cornified envelope precursor protein

Also known as: LOR

NCBI Gene: 4014ENSG00000203782UniProt: P23490OMIM: 152445

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]

OMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Vohwinkel syndrome with ichthyosisMIM #604117
AD

Clinical highlights

Interpreting a novel variant
This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Curated gene-level mechanism — a prior for triage, not a per-variant call.
0
Active trials
96
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.08
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.08LOEUF
pLI 0.335
Z-score 1.49
OE 0.23 (0.08–1.08)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.87Z-score
OE missense 1.23 (1.07–1.41)
141 obs / 114.7 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.23 (0.08–1.08)
0≤0.351.4
Missense OE?1.23 (1.07–1.41)
0≤0.61.4
Synonymous OE?1.06
0≤1.21.6
LoF obs/exp: 1 / 4.4Missense obs/exp: 141 / 114.7Syn Z: -0.33

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

LORICRIN · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients