Details for Gene TPM1

GENE NAME TPM1
CHROMOSOME 15
ENSEMBL ID None
ENTREZ ID ENSG00000140416
UNIPROT ACCESSION NUMBER P09493
GO MOLECULAR FUNCTION ['protein homodimerization activity', 'structural constituent of cytoskeleton', 'structural constituent of muscle', 'protein heterodimerization activity', 'protein binding', 'cytoskeletal protein binding', 'actin binding', 'actin filament binding', 'identical protein binding']
ESSENTIAL IN MOUSE Essential
PATHWAYS hsa04260; hsa04261; hsa05206; hsa05410; hsa05414; R-HSA-390522; R-HSA-397014; R-HSA-445355
1 combination linked to TPM1 OLI1794
1 variant linked to TPM1 TPM1:c.644C>T, p.Ser215Leu
1 disease linked to TPM1 NON RARE IN EUROPE: Familial isolated hypertrophic cardiomyopathy

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