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FLASH GENE

Symbol

TTN

contributors: mct/npt/pgu - updated : 04-03-2015

HGNC name	titin
HGNC id	12403

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

CMD1G , CMH9 , TMDT , LGMD2J , MPRM , EOMFC , RCM4

related resource

FHC Mutation Database

Susceptibility

to autoimmune scleroderma (antibodies in patients) to autoimmune form of rippling muscle disease with myasthenia gravis (ARMD) to atrial fibrillation (AF)

Variant & Polymorphism other	specific reaction of ARMD patient sera with the titin domain portion of the fusion protein GST-RMMG6

Candidate gene	strong biological candidate gene at the 2q31 locus for atrial fibrillation because of its role in maintaining the structural integrity of the sarcomere and its involvement in muscle elasticity and force transmission
Marker
Therapy target

ANIMAL & CELL MODELS

Mdm mouse