RIOK2
Description
The RIOK2 (RIO kinase 2) is a protein-coding gene located on chromosome 5.
RIOK2 is a serine/threonine-protein kinase involved in the final steps of cytoplasmic maturation of the 40S ribosomal subunit. It is also involved in the export of the 40S pre-ribosome particles (pre-40S) from the nucleus to the cytoplasm. The kinase activity of RIOK2 is essential for the release of NOB1, PNO1, and LTV1 from the late pre-40S and the processing of 18S-E pre-rRNA to the mature 18S rRNA. RIOK2 regulates the timing of the metaphase-anaphase transition during mitotic progression, and its phosphorylation, likely by PLK1, controls this function.
RIOK2 is also known as RIO2.
Associated Diseases
- lysosomal storage disease
- Alzheimer disease
- Parkinson disease
- multiple sclerosis
- cancer
- isolated asymptomatic elevation of creatine phosphokinase
- Crigler-Najjar syndrome type 2
- pentosuria
- dilated cardiomyopathy 1I
- dilated cardiomyopathy 3B
- myopathy due to calsequestrin and SERCA1 protein overload
- transient familial neonatal hyperbilirubinemia
- metabolic myopathy due to lactate transporter defect
- gluthathione peroxidase deficiency
- hypercholanemia, familial, 2
- progressive familial intrahepatic cholestasis
