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Gene : LOC106780800 Homo sapiens

Name  ? CYP21A2 recombination region Cytological Location  6p21.3
description  This region is known to undergo non-allelic homologous recombination (NAHR) with a similar low-copy repeat region, the CYP21A1P recombination region, located about 30 kb centromere-distal to this region, in direct orientation on the reference genome. Gene conversion events as well as duplications and deletions of the intervening sequence as a result of NAHR between these recombination regions have been observed. Deletions can result in a chimeric CYP21AP-CYP21A2 gene, and is a cause of congenital adrenal hyperplasia (CAH; also known as steroid 21-hydroxylase deficiency), while gene conversion events can result in deficiencies in the cytochrome P450 family 21 subfamily A member 2 gene and is also a cause of CAH. The severity of the disease can depend on the location of the recombination site, with the more severe phenotype resulting from recombination near the 3' end of the gene. This region is composed of multiple sub-regions, named CH-1' - CH-9', with each sub-region representing independent recombination events that result in a different chimeric CYP21AP-CYP21A2 gene. NAHR has been observed most frequently in the CH-1' and CH-5' sub-regions. Regions of increased meiotic recombination as shown by meiotic double-strand break mapping and using HapMap data have also been found in this region. This biological region is found within the MHC region, and multiple haplotypes of this region are represented on the GRCh38 reference genome assembly. [provided by RefSeq, Oct 2016]
  • identifiers:
  • 106780800,
  • LOC106780800

Genome feature

Region: gene ?
Location: No location information in HumanMine Cyto location: 6p21.3


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