GENE NAME | STX11 |
CHROMOSOME | 6 |
ENSEMBL ID | ENSG00000135604 |
ENTREZ ID | 8676 |
UNIPROT ACCESSION NUMBER | O75558 |
GO MOLECULAR FUNCTION | SNAP receptor activity; protein binding; SNARE binding |
ESSENTIAL IN MOUSE | None |
PATHWAYS | hsa04130 |
4 combinations linked to STX11 | OLI052; OLI980; OLI544; OLI545 |
4 variants linked to STX11 | STX11:c.627C>A, p.Ser209Arg; STX11:c.221C>T, p.Thr74Met; STX11:c.9C>A, p.Asp3Glu; STX11:c.122T>C, p.Leu41Pro |
3 diseases linked to STX11 | Hemophagocytic syndrome; Familial hemophagocytic lymphohistiocytosis; Primary hemophagocytic lymphohistiocytosis |