KRT5
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keratin 5 (epidermolysis bullosa simplex, Dowling-Meara/Kobner/Weber-Cockayne types)
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Identifiers | |
Symbol | KRT5 EBS2 |
HUGO | 6442 |
Entrez | 3852 |
OMIM | 148040 |
RefSeq | NM_000424 |
UniProt | P13647 |
Other data | |
Locus | Chr. 12 q13 |
The human keratin 5 gene (KRT5) is a gene of 2301 base pairs (in the mRNA) that encodes proteins. A missense mutation in this gene can cause the disease Epidermolysis bullosa. KRT5 is on chromosome 12.