PRODH2 Gene
Proline Dehydrogenase 2: Function, Mutations, and Associated Disorders
Gene Information Card
| Symbol | PRODH2 |
|---|---|
| Full Name | Proline Dehydrogenase 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 19q13.11 |
| NCBI Gene ID | 58510 ncbi.nlm.nih.gov/gene/58510 |
| Ensembl ID | ENSG00000104879 |
| UniProt ID | Q9UF12 |
| OMIM ID | 606810 |
| HGNC ID | 18225 |
| Aliases | HYRPRO1, PRODH2, P5CDh, P5CD, PRODH2 |
Description
The PRODH2 gene encodes proline dehydrogenase 2, a mitochondrial enzyme that catalyzes the first step in proline catabolism, converting proline to Δ1-pyrroline-5-carboxylate. This enzyme is critical for proline homeostasis and energy metabolism. Mutations in PRODH2 cause hyperprolinemia type 1 (HYRPRO1), an autosomal recessive disorder characterized by elevated plasma proline levels and neurological symptoms.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hyperprolinemia type 1 (HYRPRO1) | Loss-of-function mutations in PRODH2 impair proline dehydrogenase activity, leading to accumulation of proline in plasma and urine. | ClinVar, OMIM #239500 |
| Schizophrenia (susceptibility) | Some studies suggest PRODH2 variants may contribute to schizophrenia risk via altered proline metabolism, but evidence is not definitive. | NCBI Gene, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.3 | Medium |
| Kidney | 8.7 | Medium |
| Brain | 5.1 | Low |
| Heart | 4.2 | Low |
| Lung | 2.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 10.5 | Hepatocellular carcinoma cell line |
| HEK293 | 6.3 | Embryonic kidney cells |
| SH-SY5Y | 3.9 | Neuroblastoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1274G>A (p.Arg425Gln) | Missense | Rare | Reduced enzyme activity; associated with hyperprolinemia type 1 |
| c.1543C>T (p.Arg515*) | Nonsense | Rare | Premature stop; loss of function |
| c.1015C>T (p.Arg339Trp) | Missense | Rare | Impaired catalytic activity |
Mutation functional classification
Loss of Function (LOF)
Most PRODH2 mutations are loss-of-function, reducing or abolishing proline dehydrogenase activity, leading to hyperprolinemia type 1.
Gain of Function (GOF)
No gain-of-function mutations have been reported for PRODH2.
Dominant Negative (DN)
No dominant-negative effects have been described for PRODH2.
View complete mutation data：
Gene Ontology (GO)
| • Proline dehydrogenase activity (GO:0004657) | • Mitochondrion (GO:0005739) |
| • Proline catabolic process (GO:0006562) | • Oxidoreductase activity (GO:0016491) |
Pathways
• Proline metabolism (Reactome: R-HSA-70614)
• Arginine and proline metabolism (KEGG: hsa00330)
Protein Summary
Proline dehydrogenase 2 (PRODH2) is a 56 kDa mitochondrial flavoprotein that catalyzes the oxidation of proline to Δ1-pyrroline-5-carboxylate, using FAD as a cofactor. The enzyme is highly expressed in liver and kidney, where it regulates proline levels and contributes to energy production via the proline cycle. Structural studies reveal a homodimeric organization with a flavin-binding domain. Defects in PRODH2 lead to hyperprolinemia type 1, characterized by proline accumulation and variable neurological manifestations.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PRODH2 Knockout HEK293 Cell Line | EDJ-KQ14160 | Human | 58510 | Details Get a Quote |
| PRODH2 Knockout HeLa Cell Line | EDJ-KQ56944 | Human | 58510 | Details Get a Quote |
| PRODH2 Knockout A-549 Cell Line | EDJ-KQ65451 | Human | 58510 | Details Get a Quote |
| PRODH2 Knockout HCT 116 Cell Line | EDJ-KQ73887 | Human | 58510 | Details Get a Quote |
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