RFXAP
Domain
The C-terminal domain is necessary for the RFX complex formation.
Function
Part of the RFX complex that binds to the X-box of MHC II promoters.
Involvement in disease
MHC class II deficiency 4
MHC2D4
An autosomal recessive disorder characterized by immunodeficiency, failure to thrive, and recurrent bacterial, viral, fungal and parasitic infections from birth, usually affecting the respiratory and gastrointestinal tract. Patients may die in infancy or early childhood.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
Phosphorylated.
Tissue Specificity
Ubiquitous.
Cellular localization
- Nucleus
Alternative names
Regulatory factor X-associated protein, RFX-associated protein, RFX DNA-binding complex 36 kDa subunit, RFXAP