RNASEK
Description
The RNASEK (ribonuclease K) is a protein-coding gene located on chromosome 17.
RNASEK is an endoribonuclease that preferentially cleaves ApU and ApG phosphodiester bonds. It also hydrolyzes UpU bonds at a lower rate. RNASEK regulates the activity of vacuolar (H+)-ATPase (V-ATPase), which is responsible for acidifying and maintaining the pH of intracellular compartments. It is required at an early stage of receptor-mediated endocytosis.
RNASEK is also known as -.
Associated Diseases
- isolated asymptomatic elevation of creatine phosphokinase
- plasma fibronectin deficiency
- pentosuria
- myopathy due to calsequestrin and SERCA1 protein overload
- metabolic myopathy due to lactate transporter defect
- cryopyrin-associated periodic syndrome
