DISEASES

Disease-gene associations mined from literature

Literature associating LITAF and Charcot-Marie-Tooth disease type 2

LITAF [ENSP00000459533]

Lipopolysaccharide-induced tumor necrosis factor-alpha factor; Plays a role in endosomal protein trafficking and in targeting proteins for lysosomal degradation . Plays a role in targeting endocytosed EGFR and ERGG3 for lysosomal degradation, and thereby helps downregulate downstream signaling cascades . Helps recruit the ESCRT complex components TSG101, HGS and STAM to cytoplasmic membranes . Probably plays a role in regulating protein degradation via its interaction with NEDD4 . May also contribute to the regulation of gene expression in the nucleus . Binds DNA (in vitro) and may play a synergistic role with STAT6 in the nucleus in regulating the expression of various cytokines . May regulate the expression of numerous cytokines, such as TNF, CCL2, CCL5, CXCL1, IL1A and IL10 .

Synonyms:  LITAF,  A0A0G2JLC4,  I3L133,  I3L1H3,  I3L1I9 ...

Linkouts:  STRING  Pharos  UniProt