DISEASES

Disease-gene associations mined from literature

Literature associating FAF2 and atopic dermatitis

FAF2 [ENSP00000261942]

FAS-associated factor 2; Plays an important role in endoplasmic reticulum-associated degradation (ERAD) that mediates ubiquitin-dependent degradation of misfolded endoplasmic reticulum proteins (PubMed:18711132, PubMed:24215460). By controlling the steady-state expression of the IGF1R receptor, indirectly regulates the insulin-like growth factor receptor signaling pathway . Involved in inhibition of lipid droplet degradation by binding to phospholipase PNPL2 and inhibiting its activity by promoting dissociation of PNPL2 from its endogenous activator, ABHD5 which inhibits the rate of triacylglycerol hydrolysis . ECO:0000269|PubMed:23297223, ECO:0000269|PubMed:24215460,

Synonyms:  FAF2,  FAF2p,  hFAF2,  D6RBG6,  Q96CS3 ...

Linkouts:  STRING  Pharos  UniProt