FRG1P is localised in the nucleolus, Cajal bodies, and speckles

Facioscapulohumeral muscular dystrophy (FSHD) is
thought to be caused by a position effect mechanism in
which contraction of the subtelomeric D4Z4 repeat on
4q35 results in the transcriptional deregulation of one
or more 4qter genes.
FRG1 is a suitable candidate gene because of its
position close to the D4Z4 repeat, its high conservation,
and its transcriptional deregulation in FSHD muscle.
To obtain more insight into the function of FRG1 protein
(FRG1P), its subcellular localisation was studied. FRG1P
appears to be localised in the nucleolus, Cajal bodies,
and speckles.
These results are suggestive of a role for FRG1P in RNA
processing. Interestingly, two other neuromuscular
disorders, oculopharyngeal muscular dystrophy and
spinal muscular atrophy, are also caused by defects in
genes involved in RNA biogenesis.