DISEASES

Disease-gene associations mined from literature

Literature associating BECN1 and Danon disease

BECN1 [ENSP00000355231]

Coiled-coil myosin-like BCL2-interacting protein; Plays a central role in autophagy. Acts as core subunit of the PI3K complex that mediates formation of phosphatidylinositol 3-phosphate; different complex forms are believed to play a role in multiple membrane trafficking pathways: PI3KC3-C1 is involved in initiation of autophagosomes and PI3KC3-C2 in maturation of autophagosomes and endocytosis. Involved in regulation of degradative endocytic trafficking and required for the abcission step in cytokinesis, probably in the context of PI3KC3-C2. Essential for the formation of PI3KC3-C2 but not PI3KC3-C1 PI3K complex forms. Involved in endocytosis. Protects against infection by a neurovirulent strain of Sindbis virus. May play a role in antiviral host defense; Belongs to the beclin family.

Synonyms:  BECN1,  BECN1p,  hBECN1,  A0A024R1X5,  B4DS82 ...

Linkouts:  STRING  Pharos  UniProt  OMIM