Details for Gene STX11

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

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