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FLASH GENE

Symbol

FADS2

contributors: mct - updated : 17-12-2021

HGNC name	fatty acid desaturase 2
HGNC id	3575

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

Susceptibility

to risk of coronary artery disease (CAD) in diabetic patients to the pathogenesis of non-alcoholic fatty liver disease

Variant & Polymorphism SNP	SNPs in FADS2 gene (particularly rs174537) associate with plasma fatty acids and desaturase levels in patients with both T2D and coronary artery disease (CAD), which maybe increases the risk of CAD in diabetic patients
	genetic variants of FADS2 may contribute to the pathogenesis of non-alcoholic fatty liver disease by modifying DNA methylation
	rs968567 influences FADS2 transcription and offer first insights into the modulation of complex regulation mechanisms of FADS2 gene transcription by SNPs

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

deletion of Fads2 gene expression in the mouse abolishes the initial step in the enzymatic cascade of PUFA synthesis, that does not impair the normal viability and lifespan of male and female fads2 -/- mice, but causes sterility