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FKBP1A / FKBP12 is a member of the immunophilin protein family, which play a role in immunoregulation and basic cellular processes involving protein folding and trafficking. The protein is a cis-trans prolyl isomerase that binds the immunosuppressants FK506 and rapamycin. It interacts with several intracellular signal transduction proteins including type I TGF-beta receptor. It also interacts with multiple intracellular calcium release channels, and coordinates multi-protein complex formation of the tetrameric skeletal muscle ryanodine receptor. In mouse, deletion of this homologous gene causes congenital heart disorder known as noncompaction of left ventricular myocardium. Multiple alternatively spliced variants, encoding the same protein, have been identified. The human genome contains five pseudogenes related to this gene, at least one of which is transcribed.
Gene Name: | FK506 binding protein 1A, 12kDa |
Synonyms: | FKBP1A, 12 kDa FKBP, 12 kDa FK506-binding protein, Calstabin-1, FK506 binding protein12, Fk506-binding protein, FKBP12C, FK506-binding protein 12, FKBP-1A, Immunophilin FKBP12, FK506-binding protein 1, FKBP1, FKBP12-Exip3, PKC12, PKCI2, PPIase FKBP1A, Protein kinase C inhibitor 2, Rotamase, PPIase, FK506-binding protein 1A, FKBP-12 |
Target Sequences: | NM_000801 NP_000792.1 P62942 |
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