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Gene : LOC110011216 Homo sapiens

Name  ? paired like homeobox 2b polyalanine repeat instability region Cytological Location  4p13
description  This biological region is found within the coding region of the paired like homeobox 2b (PHOX2B) gene on the p arm of chromosome 4, and contains an imperfect trinucleotide repeat that encodes a polyalanine tract. Expansions of this tract are a cause of congenital central hypoventilation syndrome (CCHS). Most expansions are de novo and expand the 20 alanine tract by 5-13 amino acids, but some inherited alleles from parents with somatic mosaicism or incomplete penetrance have also been documented. There have been conflicting reports as to whether expansions are of paternal origin, and if they are due to unequal crossing over, or, during DNA replication. The absence of alanine-contracted alleles, and relatively high frequency of inheritance from parents with somatic mosaicism suggests that repeat instability may occur during replication fork stalling and restart. It has been reported that individuals with a 7-alanine expansion more frequently have the rs17884724 T>G, 'G' allele than seen in unexpanded control subjects. [provided by RefSeq, Apr 2017]
  • identifiers:
  • 110011216,
  • LOC110011216

Genome feature

Region: gene ?
Location: No location information in HumanMine Cyto location: 4p13

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0 Diseases

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0 Pathways

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1 Cross References

3 Data Sets

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0 Rna Seq Results