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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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PRODH
proline dehydrogenase 1
Chromosome 22 Β· 22q11.21
NCBI Gene: 5625Ensembl: ENSG00000100033.17HGNC: HGNC:9453UniProt: E7EQL6
96PubMed Papers
22Diseases
0Drugs
23Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
oxidoreductase activity, acting on the CH-NH group of donors, quinone or similar compound as acceptorproline dehydrogenase activityregulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathwaymitochondrionhyperprolinemia type 1genetic disorderschizophrenianeurodegenerative disease
✦AI Summary

PRODH (proline dehydrogenase 1) is a mitochondrial FAD-dependent enzyme that catalyzes the initial step of proline catabolism, converting proline to delta-1-pyrroline-5-carboxylate [UniProt]. The enzyme localizes to the mitochondrial inner membrane and functions as an oxidoreductase, playing a critical role in limiting mitochondrial oxidative phosphorylation and reactive oxygen species (ROS) production 1. PRODH is dramatically upregulated in naive human embryonic stem cells, where it safeguards pluripotency by preventing excessive ROS-induced autophagy, DNA damage, and apoptosis 1. In cancer biology, PRODH expression is elevated in metastases compared to primary tumors, and proline catabolism via PRODH supports metastasis formation; inhibiting PRODH impairs lung metastasis development in mouse models 2. PRODH also participates in maintaining mitochondrial redox homeostasis by restraining polyamine-driven proline catabolism 3. Clinically, PRODH mutations cause hyperprolinemia type 1 [NCBI]. Regarding neuropsychiatric disease, PRODH polymorphisms, particularly rs372055, show association with schizophrenia risk in Asian populations 4, though evidence for loss-of-function variants conferring schizophrenia susceptibility remains controversial 5. PRODH is identified as a potential biomarker in glutamine metabolism networks associated with diabetic foot ulcer complications 6.

Sources cited
1
PRODH is upregulated in naive hESCs and limits mitochondrial oxidative phosphorylation and ROS production to maintain pluripotency
PMID: 38480845
2
PRODH expression is increased in metastases and proline catabolism via PRODH supports metastasis formation; PRODH inhibition impairs lung metastasis
PMID: 28492237
3
PRODH is stimulated by polyamine accumulation and maintains mitochondrial redox homeostasis in cancer cells
PMID: 39356760
4
PRODH rs372055 polymorphism is associated with increased schizophrenia risk in Asian populations
PMID: 29047040
5
Loss-of-function PRODH variants may confer schizophrenia risk in some individuals, though evidence is controversial
PMID: 18528746
6
PRODH is identified as a glutamine metabolism-related gene associated with diabetic foot ulcer pathology
PMID: 38287255
Disease Associationsβ“˜22
hyperprolinemia type 1Open Targets
0.82Strong
genetic disorderOpen Targets
0.48Moderate
schizophreniaOpen Targets
0.20Weak
neurodegenerative diseaseOpen Targets
0.16Weak
neoplasmOpen Targets
0.09Suggestive
breast cancerOpen Targets
0.08Suggestive
gliomaOpen Targets
0.07Suggestive
renal carcinomaOpen Targets
0.07Suggestive
melanomaOpen Targets
0.07Suggestive
kidney neoplasmOpen Targets
0.06Suggestive
cancerOpen Targets
0.06Suggestive
lung adenocarcinomaOpen Targets
0.06Suggestive
triple-negative breast cancerOpen Targets
0.06Suggestive
Griscelli diseaseOpen Targets
0.06Suggestive
Griscelli disease type 3Open Targets
0.05Suggestive
Griscelli syndrome type 3Open Targets
0.05Suggestive
Absent tibia - polydactylyOpen Targets
0.05Suggestive
tibia, hypoplasia or aplasia of, with polydactylyOpen Targets
0.05Suggestive
AcheiropodiaOpen Targets
0.05Suggestive
osteopathia striata-pigmentary dermopathy-white forelock syndromeOpen Targets
0.05Suggestive
Hyperprolinemia 1UniProt
Schizophrenia 4UniProt
Pathogenic Variants23
NM_016335.6(PRODH):c.1104+2T>CLikely pathogenic
Proline dehydrogenase deficiency|Schizophrenia 4;Proline dehydrogenase deficiency
β˜…β˜…β˜†β˜†2024
NM_016335.6(PRODH):c.175C>T (p.Gln59Ter)Pathogenic
Proline dehydrogenase deficiency|Proline dehydrogenase deficiency;Schizophrenia 4
β˜…β˜…β˜†β˜†2024β†’ Residue 59
NM_016335.6(PRODH):c.1236C>A (p.Tyr412Ter)Pathogenic
Inborn genetic diseases|Proline dehydrogenase deficiency
β˜…β˜…β˜†β˜†2023β†’ Residue 412
NM_016335.6(PRODH):c.1094del (p.Val365fs)Pathogenic
Proline dehydrogenase deficiency
β˜…β˜†β˜†β˜†2024β†’ Residue 365
NM_016335.6(PRODH):c.969_972del (p.Ser323fs)Pathogenic
Proline dehydrogenase deficiency
β˜…β˜†β˜†β˜†2024β†’ Residue 323
NM_016335.6(PRODH):c.148_157del (p.Val50fs)Likely pathogenic
Proline dehydrogenase deficiency;Schizophrenia 4
β˜…β˜†β˜†β˜†2024β†’ Residue 50
NM_016335.6(PRODH):c.1252-1G>ALikely pathogenic
Proline dehydrogenase deficiency;Schizophrenia 4
β˜…β˜†β˜†β˜†2024
NM_016335.6(PRODH):c.2T>G (p.Met1Arg)Likely pathogenic
Proline dehydrogenase deficiency;Schizophrenia 4
β˜…β˜†β˜†β˜†2024β†’ Residue 1
NM_016335.6(PRODH):c.1A>C (p.Met1Leu)Likely pathogenic
Proline dehydrogenase deficiency;Schizophrenia 4
β˜…β˜†β˜†β˜†2024β†’ Residue 1
NM_016335.6(PRODH):c.1251+2C>TLikely pathogenic
Proline dehydrogenase deficiency;Schizophrenia 4
β˜…β˜†β˜†β˜†2024
NM_016335.6(PRODH):c.1177_1183del (p.Leu393fs)Likely pathogenic
Proline dehydrogenase deficiency;Schizophrenia 4
β˜…β˜†β˜†β˜†2024β†’ Residue 393
NM_016335.6(PRODH):c.38dup (p.Cys13fs)Pathogenic
Proline dehydrogenase deficiency
β˜…β˜†β˜†β˜†2024β†’ Residue 13
NM_016335.6(PRODH):c.379C>T (p.Gln127Ter)Pathogenic
Proline dehydrogenase deficiency
β˜…β˜†β˜†β˜†2022β†’ Residue 127
NM_016335.6(PRODH):c.323del (p.Leu108fs)Pathogenic
Proline dehydrogenase deficiency
β˜…β˜†β˜†β˜†2022β†’ Residue 108
NM_016335.6(PRODH):c.543C>A (p.Tyr181Ter)Pathogenic
Proline dehydrogenase deficiency
β˜…β˜†β˜†β˜†2022β†’ Residue 181
NM_016335.6(PRODH):c.457del (p.Glu153fs)Pathogenic
Proline dehydrogenase deficiency
β˜…β˜†β˜†β˜†2022β†’ Residue 153
NC_000022.11:g.(?_18913155)_(18936307_?)delPathogenic
Proline dehydrogenase deficiency
β˜…β˜†β˜†β˜†2021
NM_016335.6(PRODH):c.522_526dup (p.Lys176fs)Pathogenic
Proline dehydrogenase deficiency
β˜…β˜†β˜†β˜†2021β†’ Residue 176
NM_016335.6(PRODH):c.236T>A (p.Leu79Ter)Pathogenic
Proline dehydrogenase deficiency
β˜…β˜†β˜†β˜†2020β†’ Residue 79
NC_000022.11:g.(?_18906375)_(18986158_?)delPathogenic
Proline dehydrogenase deficiency
β˜…β˜†β˜†β˜†2018
View on ClinVar β†—
Related Genes
PYCR1Protein interaction98%PYCR2Protein interaction98%OATProtein interaction97%P4HA1Protein interaction97%PYCR3Protein interaction97%ALDH18A1Protein interaction92%
Tissue Expression6 tissues
Lung
100%
Liver
75%
Brain
57%
Ovary
7%
Bone Marrow
0%
Heart
0%
Gene Interaction Network
Click a node to explore
PRODHPYCR1PYCR2OATP4HA1PYCR3ALDH18A1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt O43272
View on AlphaFold β†—
RankingsWhere PRODH stands among ~20K protein-coding genes
  • #4,999of 20,598
    Most Researched96 Β· top quartile
  • #2,052of 5,498
    Most Pathogenic Variants23
Genes detectedPRODH
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Proline dehydrogenase gene (PRODH) polymorphisms and schizophrenia susceptibility: a meta-analysis.
PMID: 29047040
Metab Brain Dis Β· 2018
1.00
2
Velo-cardio-facial syndrome.
PMID: 16282778
Curr Opin Pediatr Β· 2005
0.90
3
PMID: 35114907
Am J Chin Med Β· 2022
0.80
4
PRODH safeguards human naive pluripotency by limiting mitochondrial oxidative phosphorylation and reactive oxygen species production.
PMID: 38480845
EMBO Rep Β· 2024
0.70
5
Proline metabolism supports metastasis formation and could be inhibited to selectively target metastasizing cancer cells.
PMID: 28492237
Nat Commun Β· 2017
0.60