Aliases for LOC108004538 Gene
External Ids for LOC108004538 Gene
- Entrez Gene: 108004538
This region is known to undergo non-allelic homologous recombination (NAHR) with a similar low-copy repeat region, the AZFa HERV15yq1 (azoospermia factor a human endogenous retrovirus 15 yq1) recombination region, which is located about 790-800 kb centromere-proximal to this region. NAHR between the AZFa HERV15yq1 and AZFa HERV15yq2 recombination regions can result in duplications and deletions of the intervening sequences, including the DEAD (Asp-Glu-Ala-Asp) box helicase 3, Y-linked (DDX3Y) and ubiquitin specific peptidase 9, Y-linked (USP9Y, also known as DFFRY) genes. Recombination occurs within the human endogenous retrovirus 15 (HERV15) element. This region contains sub-regions that have been identified as NAHR exchange sites, ID1' (identical sequence 1') and ID2' (identical sequence 2'). It also contains two meiotic recombination hotspots that overlap the NAHR exchange sites. The HERV15 element found in this recombination region differs from that found in the AZFa HERV15yq2 recombination region in that it contains a LINE element within the HERV15 sequence block. The nearly 800 kb deletion that can occur as a result of NAHR between the HERV15yq1 and HERV15yq2 recombination regions has been observed in some individuals with AZFa, and is thought to cause a complete Sertoli-cell-only type 1 phenotype. [provided by RefSeq, Oct 2016]
GeneCards Summary for LOC108004538 Gene
LOC108004538 (AZFa HERV15yq2 Recombination Region) is a Biological Region gene. Diseases associated with LOC108004538 include Azoospermia.