PYURF

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Description

The PYURF (PIGY upstream open reading frame) is a protein-coding gene located on chromosome 4.

PYURF is a mitochondrial chaperone that aids in the production of coenzyme Q (CoQ) and the assembly of NADH:ubiquinone oxidoreductase complex (complex I). It stabilizes components involved in CoQ biosynthesis, including COQ5, and supports the assembly of complex I by stabilizing assembly factors like NDUFAF5.

PYURF is also known as NDUFAFQ, PREY.

Associated Diseases

• hyperphosphatasia-intellectual disability syndrome
• lysosomal storage disease
• mitochondrial disease