TRUB2
Description
The TRUB2 (TruB pseudouridine synthase family member 2) is a protein-coding gene located on chromosome 9.
TRUB2 is a minor enzyme involved in the conversion of uridine to pseudouridine (pseudouridylation) in specific mitochondrial mRNAs like COXI and COXIII. It is also part of a complex that regulates the abundance of 16S mitochondrial ribosomal RNA (16S mt-rRNA) and is essential for mitochondrial protein synthesis. Additionally, TRUB2 catalyzes pseudouridylation of certain tRNAs, specifically modifying uracil-55 to pseudouridine(55) in the psi GC loop.
TRUB2 is also known as CLONE24922.
Associated Diseases
- hypertriglyceridemia 2
- cholesterol-ester transfer protein deficiency
- thyroid hormone metabolism, abnormal, 2
- sitosterolemia
- homozygous familial hypercholesterolemia
- hypercholesterolemia, autosomal dominant, 3
- pancreatic triacylglycerol lipase deficiency
- hyperlipidemia due to hepatic triglyceride lipase deficiency
- hypercholesterolemia, autosomal dominant, type B
- cancer
