rs763044235
This variant is located in the PYCR1 gene.
▶ClinVar annotation
About PYCR1
This gene encodes an enzyme that catalyzes the NAD(P)H-dependent conversion of pyrroline-5-carboxylate to proline. This enzyme may also play a physiologic role in the generation of NADP(+) in some cell types. The protein forms a homopolymer and localizes to the mitochondrion. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]
View all PYCR1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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