GENE NAME | GSDME |
CHROMOSOME | 7 |
ENSEMBL ID | None |
ENTREZ ID | ENSG00000105928 |
UNIPROT ACCESSION NUMBER | O60443 |
GO MOLECULAR FUNCTION | ['phosphatidylinositol-4,5-bisphosphate binding', 'protein binding', 'cardiolipin binding'] |
ESSENTIAL IN MOUSE | Non-essential |
PATHWAYS | |
1 combination linked to GSDME | OLI1317 |
2 variants linked to GSDME | GSDME:c.456T>G, p.Asn152Lys; GSDME:c.1349G>A, p.Arg450His |
1 disease linked to GSDME | Rare genetic deafness |