Disease-gene associations mined from literature

Literature associating RAB7B and Charcot-Marie-Tooth disease type 2B

RAB7B [ENSP00000479762]

RAB7B, member RAS oncogene family; Controls vesicular trafficking from endosomes to the trans-Golgi network (TGN). Acts as a negative regulator of TLR9 signaling and can suppress TLR9-triggered TNFA, IL6, and IFNB production in macrophages by promoting TLR9 lysosomal degradation. Also negatively regulates TLR4 signaling in macrophages by promoting lysosomal degradation of TLR4. Promotes megakaryocytic differentiation by increasing NF-kappa-B-dependent IL6 production and subsequently enhancing the association of STAT3 with GATA1. Not involved in the regulation of the EGF- and EGFR degradation pathway; RAB, member RAS oncogene GTPases

Synonyms:  RAB7B,  RAB7Bp,  hRAB7B,  Q96AH8,  Q96AH8p ...

Linkouts:  STRING  Pharos  UniProt