Aliases for LOC108783648 Gene
External Ids for LOC108783648 Gene
- Entrez Gene: 108783648
This region is known to undergo non-allelic homologous recombination (NAHR) with another recombination region, the NF1-REPb PRS3 recombination region, which is located a little over 1 Mb centromere-proximal to this region. NAHR between the NF1-REPb PRS3 and the NF1-REPc PRS3 recombination regions can result in deletions of the intervening sequences, including the neurofibromin 1 (NF1) gene, and is known as a type-3 NF1 deletion, causing neurofibromatosis type 1 (NF1), an autosomal dominant disorder. Those individuals with the neurofibromin 1 microdeletion caused by NAHR have early age onset and are at higher risk for development of malignant peripheral nerve sheath tumors (MPNSTs) than individuals with intragenic neurofibromin 1 mutations. This region is part of a larger low-copy repeat region, known as NF1-REPc that contains multiple recombination regions, including NF1-REPc PRS1, PRS2, PRS3 and UWA160-1. The recombination region represented here contains multiple sub-regions, representing different recombination regions where gene conversion and crossover events occurred. SNP frequency data within NF1-REPc PRS3 suggests the possibility of a weak recombination hotspot. A CGGGGC motif was found in this region, and this motif has been found to be over-represented in the vicinity of gene conversion regions and near micro-deletions and micro-insertions. [provided by RefSeq, Sep 2016]
GeneCards Summary for LOC108783648 Gene
LOC108783648 (NF1-REPc PRS3 Recombination Region) is a Biological Region gene.