FKBP8
Description
The FKBP8 (FKBP prolyl isomerase 8) is a protein-coding gene located on chromosome 19.
FK506-binding protein 8 is a protein encoded by the FKBP8 gene in humans. It belongs to the immunophilin protein family, which plays a role in immunoregulation and basic cellular processes involving protein folding and trafficking. Unlike other members of the family, FKBP8 does not exhibit PPIase/rotamase activity. It may play a role in neurons associated with memory function.
FKBP8 is a constitutively inactive peptidyl-prolyl cis-trans isomerase (PPIase) that becomes active when bound to calmodulin and calcium. It acts as a chaperone for BCL2, targeting it to the mitochondria and modulating its phosphorylation state. The BCL2/FKBP8/calmodulin/calcium complex likely interferes with the binding of BCL2 to its targets, suggesting a role for active FKBP8 in regulating apoptosis. FKBP8 is also involved in inhibiting viral infection by influenza A viruses (IAV).
FKBP8 is also known as FKBP38, FKBPr38.
Associated Diseases
- ovarian cancer
- esophageal cancer
- glioblastoma
- microcephaly-cervical spine fusion anomalies syndrome
- familial caudal dysgenesis
- hereditary spastic paraplegia 25
- posterior meningocele
- autosomal dominant spondylocostal dysostosis
- microphthalmia, isolated, with coloboma 5
- hypomyelination with brain stem and spinal cord involvement and leg spasticity
- Prata-Liberal-Goncalves syndrome
- neuronal intranuclear inclusion disease
