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Gene : LOC106780804 Homo sapiens

Name  ? tenascin XA (pseudogene) 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 tenascin XB recombination region, located about 28 kb centromere-proximal to this region, in direct orientation on the reference genome. NAHR events between these two regions, including gene conversions and deletions, have been observed. Such deletions remove several genes, including the cytochrome P450, family 21, subfamily A, polypeptide 2 (CYP21A2) gene and also creates a chimeric tenascin XA (pseudogene)-tenascin XB (TNXA-TNXB) gene. Loss of CYP21A2 together with mutations within TNXB cause congenital adrenal hyperplasia (CAH) with tenascin-X deficiency (CAH-X) syndrome. Individuals with CAH-X syndrome have both the endocrine imbalances associated with CAH as well as Ehlers-Danlos syndrome, a connective tissue disorder that results from the tenascin-X deficiency. Gene conversion events between these regions that result in mutations within the tenascin XB gene can be a cause of Ehlers-Danlos syndrome, in the absence of CAH. This region is composed of multiple sub-regions, named TNXA/TNXB-1, TNXA/TNXB-2, and TNXA/TNXB-3, with each sub-region representing independent recombination events that result in different chimeric genes. A meiotic recombination hotspot has also been mapped to this region. This biological region is found within the MHC region, and multiple haplotypes of this region are represented in the GRCh38 reference genome assembly. This biological region is found within the MHC region, and multiple haplotypes of this region are represented in the GRCh38 reference genome assembly. [provided by RefSeq, Oct 2016]
  • identifiers:
  • 106780804,
  • LOC106780804

Genome feature

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


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