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TTN - titin
- Synonym(s) : CMH9, CMPD4, FLJ32040, LGMD2J, MYLK5, TMD
- Previous symbols and names : CMD1G, cardiomyopathy, dilated 1G (autosomal dominant)
- Type : gene with protein product
- Chromosomal location : 2q31.2
- OMIM: 188840
- HGNC: 12403
- UniProtKB: Q8WZ42
- Genatlas: TTN
- GenCC: TTN
- Ensembl: ENSG00000155657
- IUPHAR-DB: 2265
- Reactome: Q8WZ42
- LOVD: TTN
Diseases list
- Disease-causing germline mutation(s) in Autosomal recessive centronuclear myopathy
ORPHA:169186 
- Disease-causing germline mutation(s) in Early-onset myopathy with fatal cardiomyopathy
ORPHA:289377 - Disease-causing germline mutation(s) in Familial isolated dilated cardiomyopathy
ORPHA:154 - Disease-causing germline mutation(s) in Hereditary myopathy with early respiratory failure
ORPHA:178464 - Disease-causing germline mutation(s) in Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant
ORPHA:293910 - Disease-causing germline mutation(s) in NON RARE IN EUROPE: Familial isolated hypertrophic cardiomyopathy
ORPHA:155 - Disease-causing germline mutation(s) in Tibial muscular dystrophy
ORPHA:609 - Disease-causing germline mutation(s) in Titin-related limb-girdle muscular dystrophy R10
ORPHA:140922 - Disease-causing germline mutation(s) (loss of function) in Childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome
ORPHA:466921 - Disease-causing germline mutation(s) (loss of function) in Classic multiminicore myopathy
ORPHA:324604 - Disease-causing germline mutation(s) (loss of function) in Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant
ORPHA:293888 - Disease-causing germline mutation(s) (loss of function) in Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant
ORPHA:293899 - Major susceptibility factor in Familial atrial fibrillation
ORPHA:334
: AssessedAdditional information
Patient-centred resources for this gene
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