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6-pyruvoyltetrahydropterin synthase pseudogene

Molecular classification: Other, pseudogene

Overview

The 6-pyruvoyltetrahydropterin synthase pseudogene is a nonfunctional genomic DNA sequence in the human genome related to the active PTS gene, which encodes 6-pyruvoyltetrahydropterin synthase—an enzyme vital in the biosynthesis of tetrahydrobiopterin (BH4). As a pseudogene, ENSG00000276149 does not encode a functional protein and has no known enzymatic, signaling, or disease-related role. Pseudogenes are common in the genome and generally result from gene duplication or retrotransposition events, often accumulating disabling mutations over time[2][4][6].

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