Peptidyl-prolyl cis-trans isomerase FKBP1B is an enzyme that in humans is encoded by the FKBP1Bgene.[5][6]
Function
The protein encoded by this gene is a member of the immunophilin protein family, which play a role in immunoregulation and basic cellular processes involving protein folding and trafficking. This encoded protein is a cis-trans prolyl isomerase that binds the immunosuppressants FK506 (tacrolimus) and rapamycin (sirolimus). It is highly similar to the FK506-binding protein 1A. Its physiological role is thought to be in excitation-contraction coupling in cardiac muscle. There are two alternatively spliced transcript variants of this gene encoding different isoforms.[6]
^"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
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Maalej A, Mbarki F, Rebai A, Karray F, Jouida J, Abid M, Ayadi H (May 2004). "Evidence of association between FKBP1B and thyroid autoimmune disorders in a large Tunisian family". Autoimmunity. 37 (3): 237–9. doi:10.1080/08916930410001702478. PMID15497458. S2CID31963934.
Aizawa Y, Ueda K, Komura S, Washizuka T, Chinushi M, Inagaki N, Matsumoto Y, Hayashi T, Takahashi M, Nakano N, Yasunami M, Kimura A, Hiraoka M, Aizawa Y (March 2005). "A novel mutation in FKBP12.6 binding region of the human cardiac ryanodine receptor gene (R2401H) in a Japanese patient with catecholaminergic polymorphic ventricular tachycardia". International Journal of Cardiology. 99 (2): 343–5. doi:10.1016/j.ijcard.2003.11.050. PMID15749201.