|Ensembl ID||Symbol||Entrez ID||RBD||RBPome||PRI||Expresion||Pathway||Phenotype||Paralog||Ortholog||GO|
The human FRG1 gene maps to human chromosome 4q35 and has been identified as a candidate for facioscapulohumeral muscular dystrophy. Currently, the function of FRG1 is unknown .
This entry represents Frg1 (FSHD region gene 1), a protein that is considered to be a candidate for facioscapulohumeral muscular dystrophy (FSHD). FSHD is a dominant neuromuscular disorder caused by deletions in a number of tandem repeat units (called D4Z4) located on chromosome 4q35. D4Z4 contains a transcriptional silencer whose deletion causes the over-expression in skeletal muscle of 4q35 genes, including Frg1 [PUBMED:16341202, PUBMED:9714712]. Frg1 is localised to nucleoli and appears to be a component of the human spliceosome [PUBMED:17103222]. When overexpressed, it binds and interferes with the activity of the histone methyltransferase Suv4-20h1 both in mammals and Drosophila, inhibiting myogenesis as a result [PUBMED:23720823].