| 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 [1].
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].
Grewal PK, Todd LC, van der Maarel S, Frants RR, Hewitt JE; , Gene 1998;216:13-19.: FRG1, a gene in the FSH muscular dystrophy region on human chromosome 4q35, is highly conserved in vertebrates and invertebrates. PUBMED:9714712 EPMC:9714712.
