Disease-gene associations mined from literature

AFF4 disease associations

AFF4 [ENSP00000265343]

Major CDK9 elongation factor-associated protein; Key component of the super elongation complex (SEC), a complex required to increase the catalytic rate of RNA polymerase II transcription by suppressing transient pausing by the polymerase at multiple sites along the DNA. In the SEC complex, AFF4 acts as a central scaffold that recruits other factors through direct interactions with ELL proteins (ELL, ELL2 or ELL3) and the P-TEFb complex. In case of infection by HIV-1 virus, the SEC complex is recruited by the viral Tat protein to stimulate viral gene expression; AF4/FMR2 family

Synonyms:  AFF4,  AFF4p,  hAFF4,  AFF4-001,  AFF4-002 ...

Linkouts:  STRING  Pharos  UniProt  OMIM