rs2538395693
This variant is located in the PYCR3 gene.
▶ClinVar annotation
About PYCR3
This gene encodes a protein that belongs to the pyrroline-5-carboxylate reductase family of enzymes. Members of this family catalyze the final step in proline biosynthesis, converting pyrroline-5-carboxylate to proline. Glutamate and ornithine are precursors in the synthesis of proline. The protein encoded by this gene is a cytoplasmic enzyme involved in the biosynthesis of proline from ornithine. [provided by RefSeq, Aug 2016]
View all PYCR3 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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