PRODH2
Description
The PRODH2 (proline dehydrogenase 2) is a protein-coding gene located on chromosome 19.
PRODH2 is an enzyme that converts trans-4-L-hydroxyproline to delta-1-pyrroline-3-hydroxy-5-carboxylate (Hyp) using ubiquinone-10 as the electron acceptor. While it can also utilize proline as a substrate, its efficiency is significantly lower. PRODH2 does not interact with other diastereomers of Hyp, such as trans-4-D-hydroxyproline and cis-4-L-hydroxyproline. Notably, PRODH2 exhibits higher efficiency when utilizing ubiquinone analogs like menadione, duroquinone, and ubiquinone-1 as terminal electron acceptors compared to oxygen.
PRODH2 is also known as HSPOX1, HYPDH.
Associated Diseases
- seizures-intellectual disability due to hydroxylysinuria syndrome
- hyperdibasic aminoaciduria type 1
- carnosinemia
- cystinuria
- iminoglycinuria
- hyperprolinemia type 2
- primary hyperoxaluria type 3
- saccharopinuria
- hyperprolinemia type 1
- primary hyperoxaluria type 2
- pentosuria
- phosphohydroxylysinuria
- beta-aminoisobutyric acid, urinary excretion of
- cystathioninuria
- Dent disease
- histidinemia
- dicarboxylic aminoaciduria
- Fanconi renotubular syndrome 1
- camptodactyly-taurinuria syndrome
- autosomal dominant progressive nephropathy with hypertension
- tyrosinemia type II
