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].
Ferri, Huichalaf, Caccia, Gabellini: "Direct interplay between two candidate genes in FSHD muscular dystrophy." in: Human molecular genetics, Vol. 24, Issue 5, pp. 1256-66, (2015) (PubMed).
Wallace, Garwick-Coppens, Tupler, Harper: "RNA interference improves myopathic phenotypes in mice over-expressing FSHD region gene 1 (FRG1)." in: Molecular therapy : the journal of the American Society of Gene Therapy, Vol. 19, Issue 11, pp. 2048-54, (2011) (PubMed).
Hanel, Wuebbles, Jones: "Muscular dystrophy candidate gene FRG1 is critical for muscle development." in: Developmental dynamics : an official publication of the American Association of Anatomists, Vol. 238, Issue 6, pp. 1502-12, (2009) (PubMed).
Aliases for FRG1 抗体
FSHD region gene 1 (FRG1) 抗体 FSHD region gene 1 (Frg1) 抗体 FSHD region gene 1 L homeolog (frg1.L) 抗体 FSHD region gene 1 (frg1) 抗体 FSHD region gene 1-like 1 (Frg1l1) 抗体 protein FRG1 (LOC738279) 抗体 FRG1 抗体 frg1 抗体 FRG1A 抗体 FSG1 抗体 MGC84293 抗体 MGC89908 抗体 zgc:112426 抗体