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Protein FRG1 is a protein that in humans is encoded by the FRG1gene.[1][2]
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.[2]
References
↑van Deutekom JC, Lemmers RJ, Grewal PK, van Geel M, Romberg S, Dauwerse HG, Wright TJ, Padberg GW, Hofker MH, Hewitt JE, Frants RR (Jun 1997). "Identification of the first gene (FRG1) from the FSHD region on human chromosome 4q35". Hum Mol Genet. 5 (5): 581–90. doi:10.1093/hmg/5.5.581. PMID8733123.
Fisher J, Upadhyaya M (1997). "Molecular genetics of facioscapulohumeral muscular dystrophy (FSHD)". Neuromuscul. Disord. 7 (1): 55–62. doi:10.1016/S0960-8966(96)00400-2. PMID9132141.
van Geel M, Heather LJ, Lyle R, et al. (1999). "The FSHD region on human chromosome 4q35 contains potential coding regions among pseudogenes and a high density of repeat elements". Genomics. 61 (1): 55–65. doi:10.1006/geno.1999.5942. PMID10512680.
Gevaert K, Goethals M, Martens L, et al. (2004). "Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides". Nat. Biotechnol. 21 (5): 566–9. doi:10.1038/nbt810. PMID12665801.
