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KRT14

keratin 14
3 disorders 2 untyped 1 causative 17q21.2 gene with protein product
HGNC:6416MonarchNCBI Gene 3861ENSG00000186847UniProt P02533OMIM 148066

Previous symbols: EBS3, EBS4.

In the knowledge base · computed from kb/ at build time

Disorders

Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.

DisorderRelationshipWhere the gene appears
Dermatopathia Pigmentosa Reticularis causative germline loss of function
mechanism: KRT14 Head Domain Truncating Variant; Keratin 14 Haploinsufficiency
Epidermolysis Bullosa untyped
Causative
mechanism: Basement Membrane Zone Structural Disruption
Epidermolysis Bullosa Simplex untyped
Causative
mechanism: KRT5/KRT14 Mutations Disrupt Keratin Intermediate Filament Network
subtype: EBS Autosomal Recessive (KRT14 null); EBS Intermediate (formerly Koebner); EBS Localized (formerly Weber-Cockayne); EBS Severe (formerly Dowling-Meara)
Mechanism modules · computed from kb/

Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.