Aliases for LOC107988033 Gene
- Xq28 Distal FLNA-EMD Recombination Region 3
External Ids for LOC107988033 Gene
- Entrez Gene: 107988033
This region is known to undergo non-allelic homologous recombination (NAHR) with a similar low-copy repeat region, the Xq28 proximal FLNA-EMD recombination region, which is in reverse orientation relative to this region, and is located upstream of this region relative to the reference genome. NAHR between the repeat regions found in these recombination regions can lead to an inversion of the 48 kb intervening sequence, including the filamin A (FLNA) gene and the emerin (EMD) gene. This inversion is observed in about 20% of X chromosomes. While there is no phenotype associated with the inversion, recombination between sequences found within the inverted region has been found in some cases of Emery-Dreifuss muscular dystrophy (EDMD), resulting in a deletion of the EMD gene. There is a meiotic recombination hotspot that partially overlaps the low-copy inverted repeat. [provided by RefSeq, Jun 2016]
GeneCards Summary for LOC107988033 Gene
LOC107988033 (Xq28 Distal FLNA-EMD Recombination Region) is a Biological Region gene.