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FLASH GENE

Symbol

COL6A3

contributors: mct - updated : 25-04-2013

HGNC name	collagen, type VI, alpha 3
HGNC id	2213

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

BTHM2 , UCMD2 , DYT27

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

mutant mice are deficient in extracellular collagen VI microfibrils and exhibit myopathic features including decreased muscle mass and contractile force