X-Nico

2 unusual facts about PABPN1


DNA-directed RNA interference

Classified as an orphan disease, there is currently no therapy for OPMD, caused by a mutation in the poly(A) binding protein nuclear 1 (PABPN1) gene.

Oculopharyngeal muscular dystrophy

This expands the polyalanine tract at the N-terminus of PABPN1 from 10 to 11-17 alanines.


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PABPN1 |


see also