GENE NAME | RAB27A |
CHROMOSOME | 15 |
ENSEMBL ID | ENSG00000069974 |
ENTREZ ID | 5873 |
UNIPROT ACCESSION NUMBER | P51159 |
GO MOLECULAR FUNCTION | protein binding; GTPase activity; G protein activity; GTP binding; GDP binding |
ESSENTIAL IN MOUSE | Non-essential |
PATHWAYS | R-HSA-199991; R-HSA-5653656; R-HSA-6798695; R-HSA-8873719; R-HSA-168256; R-HSA-264876; R-HSA-168249; R-HSA-2980736; R-HSA-392499; R-HSA-8876198; R-HSA-597592; R-HSA-9007101 |
1 combination linked to RAB27A | OLI546 |
1 variant linked to RAB27A | RAB27A:c.295T>G, p.Phe99Val |
1 disease linked to RAB27A | Familial hemophagocytic lymphohistiocytosis |