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TCAP - titin-cap
- Synonym(s) : 19 kDa sarcomeric protein, CMD1N, T-cap, TELE, telethonin, teneurin C-terminal associated peptide
- Previous symbols and names : LGMD2G, Titin-cap (telethonin), limb girdle muscular dystrophy 2G (autosomal recessive), titin-cap (telethonin)
- Type : gene with protein product
- Chromosomal location : 17q12
- OMIM: 604488
- HGNC: 11610
- UniProtKB: O15273
- Genatlas: TCAP
- GenCC: TCAP
- Ensembl: ENSG00000173991
- IUPHAR-DB: -
- Reactome: O15273
- LOVD: TCAP
Diseases list
- Disease-causing germline mutation(s) in Familial isolated dilated cardiomyopathy
ORPHA:154 - Disease-causing germline mutation(s) in NON RARE IN EUROPE: Familial isolated hypertrophic cardiomyopathy
ORPHA:155 - Disease-causing germline mutation(s) in Telethonin-related limb-girdle muscular dystrophy R7
ORPHA:34514

Additional information
Patient-centred resources for this gene
Research activities on this gene
Specialised Social Services
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