DISEASES

Disease-gene associations mined from literature

Literature associating TAX1BP3 and congenital amegakaryocytic thrombocytopenia

TAX1BP3 [ENSP00000225525]

Tax1-binding protein 3; May regulate a number of protein-protein interactions by competing for PDZ domain binding sites. Binds CTNNB1 and may thereby act as an inhibitor of the Wnt signaling pathway. Competes with LIN7A for KCNJ4 binding, and thereby promotes KCNJ4 internalization. May play a role in the Rho signaling pathway. May play a role in activation of CDC42 by the viral protein HPV16 E6.

Synonyms:  TAX1BP3,  TAX1BP3p,  hTAX1BP3,  A0A087X282,  O14907 ...

Linkouts:  STRING  Pharos  UniProt