Gene: FKBP1A-SDCBP2

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

Location in Chromosome :

Description of this Gene:

Type of Gene:

Gene: FKBP1A

Alternate names for this Gene: FKBP-12|FKBP-1A|FKBP1|FKBP12|PKC12|PKCI2|PPIASE

Gene Summary: 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. 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 is located in Chromosome: 20

Location in Chromosome : 20p13

Description of this Gene: FKBP prolyl isomerase 1A

Type of Gene: protein-coding