Disease-gene associations mined from literature

Literature associating USP9X and early infantile epileptic encephalopathy 2

USP9X [ENSP00000316357]

Probable ubiquitin carboxyl-terminal hydrolase FAF-X; Deubiquitinase involved both in the processing of ubiquitin precursors and of ubiquitinated proteins. May therefore play an important regulatory role at the level of protein turnover by preventing degradation of proteins through the removal of conjugated ubiquitin. Essential component of TGF-beta/BMP signaling cascade. Regulates chromosome alignment and segregation in mitosis by regulating the localization of BIRC5/survivin to mitotic centromeres. Specifically hydrolyzes both 'Lys-29'- and 'Lys-33'-linked polyubiquitins chains. Specifically deubiquitinates monoubiquitinated SMAD4, opposing the activity of E3 ubiquitin-protein ligase TRIM33. Involved in axonal growth and neuronal cell migration; Armadillo-like helical domain containing

Synonyms:  USP9X,  USP9Xp,  hUSP9X,  D3DWB6,  Q86X58 ...

Linkouts:  STRING  Pharos  UniProt  OMIM