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FLASH GENE

Symbol

ADD1

contributors: mct - updated : 10-03-2017

HGNC name	adducin 1 (alpha)
HGNC id	243

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 constitutional         induced disruption of the actin cytoskeleton, reduced intercellular adhesion of human keratinocytes, and decreased the levels of the desmosomal adhesion molecule DSG3 by reducing its membrane incorporation

Susceptibility

salt sensitivity susceptibility to peripheral arterial disease (PAD) and coronary heart disease (CHD) susceptibility to hypertension predisposing to the development of end-stage renal disease to essential hypertension

Variant & Polymorphism SNP	G460W allele was significantly associated with PAD and CHD
	polymorphisms increasing the risk of hypertension predisposing to the development of end-stage renal disease

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

Add1 null mice show abnormal inward curvature of the cervicothoracic spine with complete penetrance and develop severe megaesophagus