PNPT1

Description

The PNPT1 (polyribonucleotide nucleotidyltransferase 1) is a protein-coding gene located on chromosome 2.

PNPT1 is a key player in various RNA metabolic processes within the cell. It acts as a 3'-to-5' exoribonuclease, breaking down single-stranded RNA molecules. In mitochondria, PNPT1 is a component of the mtEXO complex, responsible for degrading double-stranded RNA. PNPT1 is vital for proper mitochondrial RNA processing and polyadenylation, as well as for importing specific RNA molecules into the mitochondrial matrix. It also influences mitochondrial morphology and respiration by regulating the expression of electron transport chain components. In the cytoplasm, PNPT1 degrades c-myc mRNA, leading to growth arrest in melanoma cells, and regulates the stability of specific microRNAs, such as miR-221. Additionally, PNPT1 participates in RNA cell surveillance by removing oxidized RNA molecules.

PNPT1 is also known as COXPD13, DFNB70, OLD35, PNPASE, SCA25, old-35.

Associated Diseases

• Combined oxidative phosphorylation deficiency 13
• Combined oxidative phosphorylation defect type 13
• Spinocerebellar ataxia type 25
• Spinocerebellar ataxia 25
• Deafness, autosomal recessive 70