FRG1 FSHD region gene 1 [ Homo sapiens (human) ] - Gene - Data resources

2483

FRG1 FSHD region gene 1 [ Homo sapiens (human) ]
Source: NCBI Gene (ID 2483)

Symbol: FRG1

Full name: FSHD region gene 1

Gene type: protein coding

RefSeq status: REVIEWED

Also known as: FRG1A; FSG1

Summary: This gene maps to a location 100 kb centromeric of the repeat units on chromosome 4q35 which are deleted in facioscapulohumeral muscular dystrophy (FSHD). It is evolutionarily conserved and has related sequences on multiple human chromosomes but DNA sequence analysis did not reveal any homology to known genes. In vivo studies demonstrate the encoded protein is localized to the nucleolus. [provided by RefSeq, Jul 2008]

Expression: Ubiquitous expression in bone marrow (RPKM 24.3), fat (RPKM 19.1) and 25 other tissues

Orthologs: mouse

Gene size: 22321bp

Exon count: 9