DISEASES

Disease-gene associations mined from literature

Literature associating BECN1 and cystinosis

BECN1 [ENSP00000355231]

Beclin-1-C 35 kDa; Plays a central role in autophagy (PubMed:23184933, PubMed:28445460). 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 (PubMed:20643123, PubMed:20208530, PubMed:26783301). 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. ECO:0000269|PubMed:23184933, ECO:0000269|PubMed:25275521, ECO:0000269|PubMed:26783301, ECO:0000269|PubMed:28445460,

Synonyms:  BECN1,  BECN1p,  hBECN1,  A0A024R1X5,  A0A087WVZ2 ...

Linkouts:  STRING  Pharos  UniProt  OMIM