DEFA1A3 (defensin alpha 1 and alpha 3, variable copy number locus)

2016-04-01  

Identity

HGNC
LOCATION
8p23.1
LOCUSID
ALIAS
DEFA1,DEFA3,DEFT1P

Other Information

Locus ID:

NCBI: 613253
HGNC: 32231

Variants:

dbSNP: 613253
ClinVar: 613253
COSMIC: DEFA1A3

References

Pubmed IDYearTitleCitations
205021172010Increased genomic copy number of DEFA1/DEFA3 is associated with susceptibility to severe sepsis in Chinese Han population.18
262691972015Rhesus macaque θ-defensin RTD-1 inhibits proinflammatory cytokine secretion and gene expression by inhibiting the activation of NF-κB and MAPK pathways.17
217018372011Alpha-defensin DEFA1A3 gene copy number elevation in Danish Crohn's disease patients.0
233337282013Alpha-defensin DEFA1A3 gene copy number variation in Asians and its genetic association study in Chinese systemic lupus erythematosus patients.0
269400962016Polymorphisms in α-Defensin-Encoding DEFA1A3 Associate with Urinary Tract Infection Risk in Children with Vesicoureteral Reflux.0
273584982016Low α-defensin gene copy number increases the risk for IgA nephropathy and renal dysfunction.0

Citation

Dessen P

DEFA1A3 (defensin alpha 1 and alpha 3, variable copy number locus)

Atlas Genet Cytogenet Oncol Haematol. 2016-04-01

Online version: http://atlasgeneticsoncology.org/gene/55710/defa1a3