DISEASES

Disease-gene associations mined from literature

Literature associating AMBRA1 and selective immunoglobulin deficiency disease

AMBRA1 [ENSP00000431926]

Activating molecule in BECN1-regulated autophagy protein 1; Regulates autophagy and development of the nervous system. Involved in autophagy in controlling protein turnover during neuronal development, and in regulating normal cell survival and proliferation (By similarity); DDB1 and CUL4 associated factors

Synonyms:  AMBRA1,  AMBRA1p,  hAMBRA1,  AMBRA1-001,  AMBRA1-002 ...

Linkouts:  STRING  Pharos  UniProt