AFF3
Function
Putative transcription activator that may function in lymphoid development and oncogenesis. Binds, in vitro, to double-stranded DNA.
Involvement in disease
KINSSHIP syndrome
KINS
An autosomal dominant disease characterized by developmental delay, impaired intellectual development, seizures, short stature, mesomelic dysplasia, dysmorphic facial features, horseshoe or hypoplastic kidney, and failure to thrive.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the AF4 family.
Tissue Specificity
Preferentially expressed in lymphoid tissues, highest levels being found in the thymus.
Cellular localization
- Nucleus
Alternative names
LAF4, AFF3, AF4/FMR2 family member 3, Lymphoid nuclear protein related to AF4, Protein LAF-4