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TPM2 - tropomyosin 2
- Synonym(s) : DA1, NEM4, nemaline myopathy type 4
- Previous symbols and names : AMCD1, arthrogryposis multiplex congenital, distal, type 1, tropomyosin 2 (beta)
- Type : gene with protein product
- Chromosomal location : 9p13.3
- OMIM: 190990
- HGNC: 12011
- UniProtKB: P07951
- Genatlas: TPM2
- GenCC: TPM2
- Ensembl: ENSG00000198467
- IUPHAR-DB: -
- Reactome: P07951
- LOVD: TPM2
Diseases list
- Disease-causing germline mutation(s) in Cap myopathy
ORPHA:171881 
- Disease-causing germline mutation(s) in Childhood-onset nemaline myopathy
ORPHA:171439 - Disease-causing germline mutation(s) in Congenital fiber-type disproportion myopathy
ORPHA:2020 - Disease-causing germline mutation(s) in Distal arthrogryposis type 1
ORPHA:1146 - Disease-causing germline mutation(s) in Sheldon-Hall syndrome
ORPHA:1147 - Disease-causing germline mutation(s) in Typical nemaline myopathy
ORPHA:171436
: AssessedAdditional information
Patient-centred resources for this gene
Research activities on this gene
Specialised Social Services
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