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FLASH GENE

Symbol

DEFB4A

contributors: mct - updated : 17-08-2011

HGNC name	defensin, beta 4A
HGNC id	2767

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --over   in colon carcinoma tumoral     --over   in human lung cancer, and expression levels may depend on differentiation grade of lung adenocarcinoma ( constitutional     --over   in systemic lupus erythematosus

Susceptibility

low copy number may predispose to Crohn disease high copy number is associated to psoriasis

Variant & Polymorphism other	low beta-defensin gene copy number in Crohn disease was clearly associated with colonic disease localization, a normal beta-defensin copy number distribution was seen in Crohn disease of the ileum and also in ulcerative colitis

Candidate gene
Marker	second trimester amniotic fluid DEB4A might be a predictor of premature rupture of membranes
Therapy target

ANIMAL & CELL MODELS