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General information
Gene symbol KRT5
Gene name keratin 5
Chromosome 12
Chromosomal band q13.13
Imprinted Unknown
Genomic reference NG_008297.1
Transcript reference NM_000424.3
Associated with diseases Epidermolysis bullosa herpetiformis, Dowling-Meara, Epidermolysis bullosa simplex with migratory circinate erythema, Epidermolysis bullosa simplex with mottled pigmentation, Epidermolysis bullosa simplex, autosomal recessive, Epidermolysis bullosa simplex, Cockayne-Touraine type, Epidermolysis bullosa simplex, Koebner type, Reticulate acropigmentation of Kitamura
Citation reference(s) -
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 1
Unique public DNA variants reported 1
Individuals with public variants 0
Hidden variants 0
Date created May 03, 2013
Date last updated August 27, 2015
Version KRT5:150827

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NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
HGNC 6442
Entrez Gene 3852
PubMed articles KRT5
OMIM - Gene 148040
OMIM - Diseases Epidermolysis bullosa herpetiformis, Dowling-Meara
Epidermolysis bullosa simplex with migratory circinate erythema
Epidermolysis bullosa simplex with mottled pigmentation
Epidermolysis bullosa simplex, autosomal recessive
Epidermolysis bullosa simplex, Cockayne-Touraine type
Epidermolysis bullosa simplex, Koebner type
Reticulate acropigmentation of Kitamura

Active transcripts




NCBI ID     

NCBI Protein ID     

00010762 12 keratin 5 NM_000424.3 NP_000415.2 1