DISEASES

Disease-gene associations mined from literature

Literature associating ATG5 and Bardet-Biedl syndrome 4

ATG5 [ENSP00000358072]

Apoptosis-specific protein; Involved in autophagic vesicle formation. Conjugation with ATG12, through a ubiquitin-like conjugating system involving ATG7 as an E1-like activating enzyme and ATG10 as an E2-like conjugating enzyme, is essential for its function. The ATG12-ATG5 conjugate acts as an E3-like enzyme which is required for lipidation of ATG8 family proteins and their association to the vesicle membranes. Involved in mitochondrial quality control after oxidative damage, and in subsequent cellular longevity. Plays a critical role in multiple aspects of lymphocyte development and is essential for both B and T lymphocyte survival and proliferation. Required for optimal processing and presentation of antigens for MHC II. Involved in the maintenance of axon morphology and membrane structures, as well as in normal adipocyte differentiation. Promotes primary ciliogenesis through removal of OFD1 from centriolar satellites and degradation of IFT20 via the autophagic pathway; Autophagy related

Synonyms:  ATG5,  ATG5p,  hATG5,  A9UGY9,  ATG5-001 ...

Linkouts:  STRING  Pharos  UniProt