GENE NAME | EXPH5 |
CHROMOSOME | 11 |
ENSEMBL ID | None |
ENTREZ ID | ENSG00000110723 |
UNIPROT ACCESSION NUMBER | Q8NEV8 |
GO MOLECULAR FUNCTION | ['small GTPase binding'] |
ESSENTIAL IN MOUSE | None |
PATHWAYS | |
2 combinations linked to EXPH5 | OLI443; OLI1248 |
2 variants linked to EXPH5 | EXPH5:c.5422C>T, p.Arg1808Ter; EXPH5:c.1153C>T, p.Gln385Ter |
2 diseases linked to EXPH5 | Epidermolysis bullosa simplex; Junctional epidermolysis bullosa |