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FLASH GENE

Symbol

DES

contributors: mct/npt - updated : 06-09-2018

HGNC name	desmin
HGNC id	2770

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

DESM , CMD1I , RCM2 , SCPNK , LGMD2R

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --over   in colorectal cancer stroma, observed in late stage tumors, consistent with increased angiogenesis constitutional     --over   abnormal accumulation of desmin in gastrocnemius myofibers of patients with peripheral artery disease

Susceptibility

Variant & Polymorphism

Candidate gene
Marker	phosphorylation of serine 28 on DES could be a specific marker of the altered desmin filament network in the context of cardiomyopathy
	MYH7, IGFBP7, ANXA2, and DES are all excellent candidate plasma biomarkers of heart failure
Therapy target

ANIMAL & CELL MODELS