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BHE12107294
Proline dehydrogenase, mitochondrial is an enzyme that in humans is encoded by the PRODH gene. The protein encoded by this gene is a mitochondrial proline dehydrogenase which catalyzes the first step in proline catabolism. Deletion of this gene has been associated with type I hyperprolinemia. The gene is located on chromosome 22q11.21, a region which has also been associated with the contiguous gene deletion syndromes: DiGeorge syndrome and CATCH22 syndrome.
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