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Sepiapterin reductase pseudogene (SPR pseudogene (not standardized; no widely accepted abbreviation))
- Target
- SPR pseudogene (not standardized; no widely accepted abbreviation)
- Molecular classification
- Pseudogene, Non-functional gene fragment
01
Overview
This entry represents a non-coding **pseudogene** related to the functional *sepiapterin reductase* gene (SPR). Pseudogenes arise from duplication or retrotransposition of protein-coding genes but typically lack functional protein expression due to mutations, truncations, or missing regulatory sequences[1]. The ENSG00000223920 locus shares sequence similarity with SPR but does not encode an active enzyme or participate in biological pathways. The canonical SPR enzyme (not this pseudogene) is a critical oxidoreductase in tetrahydrobiopterin biosynthesis and has implications in brain function, cardiovascular disease, and pain, but pseudogenes like ENSG00000223920 have no therapeutic or biological relevance[2][4][5].
- Other names
- Sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase) pseudogene
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