Family

FRG1-like (IPR010414)

Short name: FRG1

Family relationships

None.

Description

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 [PMID: 16341202, PMID: 9714712]. Frg1 is localised to nucleoli and appears to be a component of the human spliceosome, but its exact function is unknown [PMID: 17103222].

Contributing signatures

Signatures from InterPro member databases are used to construct an entry.
PANTHER
Pfam