Details for Gene AMBRA1

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

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