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Gene Review

DEFA1A3  -  defensin, alpha 1 and alpha 3, variable...

Homo sapiens

Synonyms: DEFA1, DEFA3, DEFT1P
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High impact information on DEFA1A3

  • The total number of gene copies per diploid genome varied between four and 11 in a sample of 111 control individuals from the UK, with approximately 10% (11/111) of people lacking DEFA3 completely [1].
  • Inter-population variability of DEFA3 gene absence: correlation with haplotype structure and population variability [2].
  • Association analysis of DEFA3 absence with 136 SNPs from a 100-kb region identified a conserved haplotype in the Caucasian population, extending for the whole region [2].
  • The alpha-defensin cluster on human chromosome 8p23.1 is one of the better-characterized CNVs, in which high copy number variability affecting the DEFA1 and DEFA3 genes has been reported [2].


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