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Gene : LOC107303338 Homo sapiens

Name  ? 3p25 FANCD2 Alu-mediated recombination region Cytological Location  3p25
description  This biological region overlaps the Fanconi anemia complementation group D2 (FANCD2) gene and is known to undergo Alu-repeat-mediated non-allelic homologous recombination (NAHR) with the 3p25 interleukin 1 receptor associated kinase 2 Alu-mediated recombination region and the 3p25 TatD DNase domain containing 2 Alu-mediated recombination region, located about 64 kb and 175 kb downstream of this region on the reference genome, respectively. Recombination between these regions can result in deletion of the intervening sequences, including the von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase (VHL) gene. Deletion of the VHL gene is one cause of Von Hippel-Lindau syndrome, which is inherited in autosomal dominant manner and predisposes individuals to multiple tumors. Deletions of various size have been reported, many of which are the result of Alu-mediated recombination. The severity of the disease is dependent on both the size and location of the deletion. This recombination region is composed of multiple sub-regions, representing different regions in which Alu-mediated recombination has been observed, and also contains an overlapping meiotic recombination hotspot. Recombination events that result in the deletion of VHL have also been reported in regions overlapping the proline rich transmembrane protein 3 (PRRT3) gene, the BRICK1, SCAR/WAVE actin-nucleating complex subunit (BRK1) gene, the Fanconi anemia complementation group D2 (FANCD2) gene, and the von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase (VHL) gene. [provided by RefSeq, Mar 2016]
  • identifiers:
  • 107303338,
  • LOC107303338

Genome feature

Region: gene ?
Location: No location information in HumanMine Cyto location: 3p25


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