Details for Gene EXPH5

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 OLI1248; OLI443
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

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