KRT14

Chr 17ADAR

keratin 14

Also known as: CK14, EBS1, EBS1A, EBS1B, EBS1C, EBS1D, EBS3, EBS4

NCBI Gene: 3861 ENSG00000186847 UniProt: P02533 OMIM: 148066

The protein forms heterotetramer complexes with keratin 5 to create intermediate filaments that comprise the cytoskeleton of epithelial cells, with the nonhelical tail domain promoting filament bundling and mechanical resilience. Mutations cause multiple forms of epidermolysis bullosa simplex (ranging from localized to severe generalized), dermatopathia pigmentosa reticularis, and Naegeli-Franceschetti-Jadassohn syndrome through dominant-negative mechanisms, with inheritance patterns that are typically autosomal dominant but can be autosomal recessive. The pathogenicity results from disrupted keratin filament structure and function, compromising epithelial cell integrity and leading to skin fragility and blistering.

GeneReviews OMIM ResearchSummary from RefSeq, OMIM, UniProt, Mechanism

This gene encodes a member of the keratin family, the most diverse group of intermediate filaments. This gene product, a type I keratin, is usually found as a heterotetramer with two keratin 5 molecules, a type II keratin. Together they form the cytoskeleton of epithelial cells. Mutations in the genes for these keratins are associated with epidermolysis bullosa simplex. At least one pseudogene has been identified at 17p12-p11. [provided by RefSeq, Jul 2008]

GeneReviews OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Dermatopathia pigmentosa reticularisMIM #125595

Epidermolysis bullosa simplex 1A, generalized severeMIM #131760

Epidermolysis bullosa simplex 1B, generalized intermediateMIM #131900

Epidermolysis bullosa simplex 1C, localizedMIM #131800

Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessiveMIM #601001

Naegeli-Franceschetti-Jadassohn syndromeMIM #161000

Clinical highlights

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

117

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.85

LOEUF

Multiple*

Mechanism· G2P

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