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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
- Ensembl: ENSG00000155657
- IUPHAR-DB: 2265
- Reactome: Q8WZ42
Diseases list
- Disease-causing germline mutation(s) in Autosomal recessive centronuclear myopathy
- Disease-causing germline mutation(s) in Autosomal recessive limb-girdle muscular dystrophy type 2J
- Disease-causing germline mutation(s) in Early-onset myopathy with fatal cardiomyopathy
- Disease-causing germline mutation(s) in Familial isolated arrhythmogenic ventricular dysplasia, biventricular form
- Disease-causing germline mutation(s) in Familial isolated arrhythmogenic ventricular dysplasia, left dominant form
- Disease-causing germline mutation(s) in Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
- Disease-causing germline mutation(s) in Familial isolated dilated cardiomyopathy
- Disease-causing germline mutation(s) in Hereditary proximal myopathy with early respiratory failure
- Disease-causing germline mutation(s) in Tibial muscular dystrophy
- Disease-causing germline mutation(s) (loss of function) in Childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome
- Disease-causing germline mutation(s) (loss of function) in Classic multiminicore myopathy
: AssessedAdditional information
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