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KRT14 - keratin 14
- Synonym(s) : epidermolysis bullosa simplex, Dowling-Meara, Koebner
- Previous symbols and names : 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
- Ensembl: ENSG00000186847
- IUPHAR-DB: -
- Reactome: P02533
- LOVD: KRT14
Diseases list
- Disease-causing germline mutation(s) in Dermatopathia pigmentosa reticularis
- Disease-causing germline mutation(s) in Epidermolysis bullosa simplex, autosomal recessive K14
- Disease-causing germline mutation(s) in Epidermolysis bullosa simplex, generalized intermediate
- Disease-causing germline mutation(s) in Epidermolysis bullosa simplex, generalized severe
- Disease-causing germline mutation(s) in Epidermolysis bullosa simplex with mottled pigmentation
- Disease-causing germline mutation(s) in Localized epidermolysis bullosa simplex
- Disease-causing germline mutation(s) in Naegeli-Franceschetti-Jadassohn syndrome
: AssessedAdditional information
Health care resources for this gene
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The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.