Details for Gene CAV3

GENE NAME CAV3
CHROMOSOME 3
ENSEMBL ID ENSG00000182533
ENTREZ ID 859
UNIPROT ACCESSION NUMBER P56539
GO MOLECULAR FUNCTION protein C-terminus binding; transmembrane transporter binding; protein binding; connexin binding; protein-containing complex binding; molecular adaptor activity
ESSENTIAL IN MOUSE Non-essential
PATHWAYS hsa05205; R-HSA-397014; hsa05020; hsa05100; hsa04510; hsa05418; hsa04144; R-HSA-445355
1 combination linked to CAV3 OLI459
1 variant linked to CAV3 CAV3:c.233C>T, p.Thr78Met
1 disease linked to CAV3 Familial long QT syndrome

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