Disease-gene associations mined from literature

Literature associating LITAF and Charcot-Marie-Tooth disease X-linked recessive 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; Belongs to the CDIP1/LITAF family.

Synonyms:  LITAF,  I3L133,  I3L1H3,  I3L1I9,  I3L1P1 ...

Linkouts:  STRING  Pharos  UniProt