FKBP1B
Description
The FKBP1B (FKBP prolyl isomerase 1B) is a protein-coding gene located on chromosome 2.
FKBP1B is a human enzyme encoded by the FKBP1B gene. It is a member of the immunophilin protein family, which are involved in immunoregulation and cellular processes like protein folding and trafficking. FKBP1B is a cis-trans prolyl isomerase that binds to the immunosuppressants FK506 (tacrolimus) and rapamycin (sirolimus). It is highly similar to FKBP1A and is thought to be involved in excitation-contraction coupling in cardiac muscle. Two alternatively spliced transcript variants of FKBP1B encode different isoforms. Defective interaction between FKBP1B and the ryanodine receptor is linked to arrhythmias seen in individuals with catecholaminergic polymorphic ventricular tachycardia.
FKBP1B contributes to the immunosuppressive and toxic effects of FK506 and rapamycin. As a peptidyl-prolyl cis-trans isomerase (PPIase), FKBP1B accelerates protein folding by catalyzing the cis-trans isomerization of proline imidic peptide bonds in oligopeptides.
FKBP1B is also known as FKBP12.6, FKBP1L, OTK4, PKBP1L, PPIase.
Associated Diseases
- familial atrial fibrillation
- Brugada syndrome
- atrial fibrillation, familial, 12
- atrial fibrillation, familial, 3
- atrial fibrillation, familial, 9
- Brugada syndrome 1
- type 2 diabetes mellitus
- catecholaminergic polymorphic ventricular tachycardia
- ventricular fibrillation, paroxysmal familial, type 1
- Brugada syndrome 3
