KLHL22
Description
The KLHL22 (kelch like family member 22) is a protein-coding gene located on chromosome 22.
KLHL22 acts as a substrate-specific adapter within the BCR (BTB-CUL3-RBX1) E3 ubiquitin ligase complex. This complex is crucial for proper chromosome alignment and the localization of PLK1 at kinetochores. KLHL22 facilitates the monoubiquitination of PLK1, causing its dissociation from phosphoreceptor proteins and subsequent removal from kinetochores. This process silences the spindle assembly checkpoint (SAC) and enables chromosome segregation. Notably, the monoubiquitination of PLK1 does not trigger its degradation. Additionally, the BCR(KLHL22) complex is responsible for the amino acid-stimulated polyubiquitination and proteasomal degradation of DEPDC5. By degrading DEPDC5, the complex releases the GATOR1 complex-mediated inhibition of the TORC1 pathway, effectively acting as an amino acid-dependent activator in the amino acid-sensing branch of the TORC1 pathway. This regulation ultimately influences various cellular processes including cell growth and autophagy.
KLHL22 is also known as KELCHL.
Associated Diseases
- type 2 diabetes mellitus
- early-onset non-syndromic cataract
- isolated ectopia lentis
- cataract
- hereditary hyperferritinemia with congenital cataracts
- cataract 13 with adult I phenotype
- cataract 38
- granular corneal dystrophy type I
- cataract 12 multiple types
- cataract 5 multiple types
