Polyalanine disease

The expansion of polyalanine repeats in a number of proteins can cause diseases with symptoms that include intellectual disability and congenital defects. Of nine currently known proteins associated with polyalanine diseases, eight are transcription factors. These genes include:

  1. SOX3 (fly SoxN)
  2. ARX
  3. FOXL2
  4. HOXD13
  5. HOXA13
  6. PABPN1
  7. PHOX2B
  8. RUNX2
  9. ZIC2

For review, see:

Polyalanine tract disorders and neurocognitive phenotypes by Shoubridge and Gecz