Disease relevance of FRAG1

• Human FRAG1 was mapped by fluorescence in situ hybridization and radiation hybrid analysis to chromosome 11 at band p15.5, a region implicated in Beckwith-Wiedemann syndrome and a region of frequent loss of heterozygosity in multiple tumor types [1].
• We have previously identified a chromosomal rearrangement between fibroblast growth factor receptor 2 (FGFR2) and a novel gene, FRAG1, in a rodent model of osteosarcoma [1].

High impact information on FRAG1

• Therefore, PGAP2 deficiency caused transport to the cell surface of lyso-GPI-APs that were sensitive to a phospholipase D. These results demonstrate that PGAP2 is involved in the processing of GPI-APs required for their stable expression at the cell surface [2].
• Human FRAG1 encodes a novel membrane-spanning protein that localizes to chromosome 11p15.5, a region of frequent loss of heterozygosity in cancer [1].
• FRAG1 mRNA was ubiquitously expressed in human adult tissues and several tumor cell lines at varying levels of abundance [1].
• Analysis of FRAG1 gene structure revealed that the FH domains were encoded by tandem duplicated exons [1].

Analytical, diagnostic and therapeutic context of FRAG1

• Sequence analysis of the cDNA revealed the presence of an insertion not contained in the original FRAG1 sequence [1].

References