KRT14 - keratin 14

ORPHA122897
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

Diseases list

Disease-causing germline mutation(s) in Dermatopathia pigmentosa reticularis
Disease-causing germline mutation(s) in Epidermolysis bullosa simplex, Dowling-Meara type
Disease-causing germline mutation(s) in Epidermolysis bullosa simplex with mottled pigmentation
Disease-causing germline mutation(s) in Generalized epidermolysis bullosa simplex, non-Dowling-Meara type
Disease-causing germline mutation(s) in KRT14-related epidermolysis bullosa simplex
Disease-causing germline mutation(s) in Localized epidermolysis bullosa simplex
Disease-causing germline mutation(s) in Naegeli-Franceschetti-Jadassohn syndrome

Assessed

Additional information
- Health care resources for this gene
  - Diagnostic tests (26)
- Research activities on this gene
- Specialised Social Services
  - Eurordis directory
- Orphanet Reports series
  - Prevalence of rare diseases
  - Orphan drugs in Europe
- Getting involved /informed

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.

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KRT14 - keratin 14

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