GENE NAME | KRT5 |
CHROMOSOME | 12 |
ENSEMBL ID | ENSG00000186081 |
ENTREZ ID | 3852 |
UNIPROT ACCESSION NUMBER | P13647 |
GO MOLECULAR FUNCTION | structural constituent of cytoskeleton; protein binding |
ESSENTIAL IN MOUSE | Essential |
PATHWAYS | R-HSA-1500931; R-HSA-6809371; R-HSA-1266738; R-HSA-446107; R-HSA-446728; R-HSA-6805567 |
4 combinations linked to KRT5 | OLI414; OLI250; OLI517; OLI240 |
4 variants linked to KRT5 | KRT5:c.1412G>A, p.Arg471His; KRT5:c.464T>C, p.Leu155Pro; KRT5:c.548T>C, p.Ile183Thr; KRT5:c.1261G>A, p.Gly421Arg |
1 disease linked to KRT5 | Epidermolysis bullosa simplex |