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KRT14 - keratin 14
- Synonym(s) : epidermolysis bullosa simplex, Dowling-Meara, Koebner
- Previous symbols and names : 'keratin 14 (epidermolysis bullosa simplex, Dowling-Meara, Koebner)', EBS3, EBS4, Keratin 14 (epidermolysis bullosa simplex, Dowling-Meara, Koebner), keratin 14, type I
- Type : gene with protein product
- Chromosomal location : 17q21.2
- OMIM: 148066
- HGNC: 6416
- UniProtKB: P02533
- Genatlas: KRT14
- GenCC: KRT14
- Ensembl: ENSG00000186847
- IUPHAR-DB: -
- Reactome: P02533
- LOVD: KRT14
Diseases list
- Disease-causing germline mutation(s) in Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form
ORPHA:79399 
- Disease-causing germline mutation(s) in Autosomal dominant generalized epidermolysis bullosa simplex, severe form
ORPHA:79396 - Disease-causing germline mutation(s) in Autosomal recessive generalized epidermolysis bullosa simplex
ORPHA:89838 - Disease-causing germline mutation(s) in Dermatopathia pigmentosa reticularis
ORPHA:86920 - Disease-causing germline mutation(s) in Epidermolysis bullosa simplex with mottled pigmentation
ORPHA:79397 - Disease-causing germline mutation(s) in Localized epidermolysis bullosa simplex
ORPHA:79400 - Disease-causing germline mutation(s) in Naegeli-Franceschetti-Jadassohn syndrome
ORPHA:69087
: AssessedAdditional information
Patient-centred resources for this gene
Research activities on this gene
Specialised Social Services
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