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Gene : LOC106029240 Homo sapiens

Name  ? S232-VCX3A recombination region Cytological Location  Xp22.3
description  This region is known to undergo non-allelic homologous recombination (NAHR) with a similar low-copy repeat region, the S232-VCX2 (S232 variable charge, X linked 2) recombination region, which is located about 1.6 Mb downstream of this region. NAHR between these regions can result in deletions of the intervening sequences, including the STS (steroid sulfatase, isozyme S) and VCX3A (variable charge, X-linked 3A) genes. This contiguous 1.6 Mb deletion can result in complex disorders including XLI (X-linked ichthyosis) together with cognitive impairment. Loss of STS is thought to be the cause of XLI. Some data argues that loss of VCX3A is responsible for cognitive impairment, while other data argues against this hypothesis. Duplications, triplications, and other complex rearrangements in this region have also been observed. This region contains two variable number of tandem repeat unit (VNTR) sub-regions named RU1 (repeating unit 1) and RU2 (repeating unit 2), an NAHR exchange sub-region contained within the RU2 VNTR, and an overlapping meiotic recombination hotspot. The majority of NAHR events occur within the RU2 VNTR sub-region, which is asymmetric in that it is composed of 90% purines with no C's on one strand, while the other strand is 90% pyrimidines, with no G's. The meiotic recombination hotspot motif, CCNCCNTNNCCNC, is found within many of the RU2 repeat units. [provided by RefSeq, Jul 2017]
  • identifiers:
  • 106029240,
  • LOC106029240

Genome feature

Region: gene ?
Location: No location information in HumanMine Cyto location: Xp22.3

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1 Cross References

4 Data Sets

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