KRT5

Chr 12

keratin 5

Also known as: CK5, DDD, DDD1, EBS1, EBS2, EBS2A, EBS2B, EBS2C

NCBI Gene: 3852 ENSG00000186081 UniProt: P13647

The KRT5 protein forms keratin intermediate filaments in the basal epidermis and maintains the skin barrier against mechanical stress. Mutations cause various forms of epidermolysis bullosa simplex with skin fragility and blistering, as well as Dowling-Degos disease affecting skin pigmentation and other ectodermal features. The gene shows both autosomal dominant and autosomal recessive inheritance patterns depending on the specific condition and is highly constrained against loss-of-function variants.

GeneReviews ResearchSummary from RefSeq, OMIM, UniProt

The protein encoded by this gene is a member of the keratin gene family. The type II cytokeratins consist of basic or neutral proteins which are arranged in pairs of heterotypic keratin chains coexpressed during differentiation of simple and stratified epithelial tissues. This type II cytokeratin is specifically expressed in the basal layer of the epidermis with family member KRT14. Mutations in these genes have been associated with a complex of diseases termed epidermolysis bullosa simplex. The type II cytokeratins are clustered in a region of chromosome 12q12-q13. [provided by RefSeq, Jul 2008]

GeneReviews ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtEpidermolysis bullosa simplex 2A, generalized severe

UniProtEpidermolysis bullosa simplex 2B, generalized intermediate

UniProtEpidermolysis bullosa simplex 2C, localized

UniProtEpidermolysis bullosa simplex 2D, generalized, intermediate or severe, autosomal recessive

Clinical highlights

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

123

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.44

LOEUF

Multiple*

Mechanism· G2P

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