Previous symbols: EBS2. Aliases: KRT5A, CK-5.
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.
| Disorder | Relationship | Where the gene appears |
|---|---|---|
| Dowling-Degos Disease | causative |
mechanism: Basal Keratinocyte Keratin 5 Haploinsufficiency
subtype: DDD1
scoped to subtype: DDD1
|
| 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 AR KRT5; EBS Intermediate (formerly Koebner); EBS Localized (formerly Weber-Cockayne); EBS Severe (formerly Dowling-Meara); EBS-MCE; EBS-MP
|
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.