GENE NAME | AMBRA1 |
CHROMOSOME | 11 |
ENSEMBL ID | ENSG00000110497 |
ENTREZ ID | 55626 |
UNIPROT ACCESSION NUMBER | Q9C0C7 |
GO MOLECULAR FUNCTION | ubiquitin protein ligase binding; protein binding |
ESSENTIAL IN MOUSE | Essential |
PATHWAYS | hsa05022; hsa05017; hsa04137; hsa05014; hsa04140; hsa05016; hsa05010; R-HSA-9612973; R-HSA-1632852 |
1 combination linked to AMBRA1 | OLI761 |
1 variant linked to AMBRA1 | AMBRA1:c.1244G>A, p.Arg415His |
1 disease linked to AMBRA1 | Craniorachischisis |