Gene:
proline dehydrogenase (oxidase) 1
Gene ID:
200474
Symbol:
PRODH
Species:
1000
Description:
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.