RPUSD2
Description
The RPUSD2 (RNA pseudouridine synthase domain containing 2) is a protein-coding gene located on chromosome 15.
RPUSD2 catalyzes the conversion of uridine to pseudouridine in mRNA molecules, a process known as pseudouridylation.
RPUSD2 is also known as C15orf19, C18B11, PUS9.
Associated Diseases
- X-linked retinal dysplasia
- severe early-childhood-onset retinal dystrophy
- glycoprotein storage disease
- hemoglobin H disease
- hereditary persistence of fetal hemoglobin-sickle cell disease syndrome
- hemoglobin C-beta-thalassemia syndrome
- dominant beta-thalassemia
- type 2 diabetes mellitus
