Overview:

FKBP1A is a member of the immunophilin protein family which plays a role in immunoregulation and basic cellular processes involving protein folding and trafficking. FKBP1A is a cis-trans prolyl isomerase that binds the immunosuppressants FK506 and Rapamycin. FKBP1A interacts with various type I receptors, including the TGF-beta type I receptor and competitive binding assays show that the type I receptor may be a natural ligand for FKBP1A (1). FKBP1A-deficient mice have normal skeletal muscle but show severe dilated cardiomyopathy and ventricular septal defects that mimick a human congenital heart disorder (2).

Gene Aliases:

FKBP12, FKBP1, PKC12, PKCI2, PPIASE, FKBP-12, FKBP12C

Genbank Number:

NM_000801

References:

1. Wang, T. et.al: Specific interaction of type I receptors of the TGF-beta family with the immunophilin FKBP-12. Science 265: 674-676, 1994.

2. Shou, W. et al: Cardiac defects and altered ryanodine receptor function in mice lacking FKBP12. Nature 391: 489-492, 1998.