Gene: PRODH

Alternate names for this Gene: HSPOX2|PIG6|POX|PRODH1|PRODH2|TP53I6

Gene Summary: This gene encodes a mitochondrial protein that catalyzes the first step in proline degradation. Mutations in this gene are associated with hyperprolinemia type 1 and susceptibility to schizophrenia 4 (SCZD4). This gene is located on chromosome 22q11.21, a region which has also been associated with the contiguous gene deletion syndromes, DiGeorge and CATCH22. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.

Gene is located in Chromosome: 22

Location in Chromosome : 22q11.21

Description of this Gene: proline dehydrogenase 1

Type of Gene: protein-coding

rs2238732 in PRODH gene and Alanine measurement PMID 30659259 2019 Genetic basis for plasma amino acid concentrations based on absolute quantification: a genome-wide association study in the Japanese population.

rs2238732 in PRODH gene and Amino acids measurement PMID 30659259 2019 Genetic basis for plasma amino acid concentrations based on absolute quantification: a genome-wide association study in the Japanese population.

PMID 26068415 2015 Genome-wide association study identifies novel genetic variants contributing to variation in blood metabolite levels.

rs2904552 in PRODH gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs117935223 in PRODH gene and Chronic Kidney Diseases PMID 29545352 2018 Genome-Wide Association Studies of Metabolites in Patients with CKD Identify Multiple Loci and Illuminate Tubular Transport Mechanisms.

rs117935223 in PRODH gene and Kidney Failure, Chronic PMID 29545352 2018 Genome-Wide Association Studies of Metabolites in Patients with CKD Identify Multiple Loci and Illuminate Tubular Transport Mechanisms.

rs2238732 in PRODH gene and Leucine measurement PMID 30659259 2019 Genetic basis for plasma amino acid concentrations based on absolute quantification: a genome-wide association study in the Japanese population.

rs137852934 in PRODH gene and Proline dehydrogenase deficiency PMID 17135275 2007 Involvement of hyperprolinemia in cognitive and psychiatric features of the 22q11 deletion syndrome.

PMID 12217952 2002 PRODH mutations and hyperprolinemia in a subset of schizophrenic patients.

PMID 15662599 2005 Functional consequences of PRODH missense mutations.

rs2238732 in PRODH gene and Proline measurement PMID 30659259 2019 Genetic basis for plasma amino acid concentrations based on absolute quantification: a genome-wide association study in the Japanese population.

rs2904551 in PRODH gene and SCHIZOPHRENIA 4 (disorder) PMID 11891283 2002 Genetic variation at the 22q11 PRODH2/DGCR6 locus presents an unusual pattern and increases susceptibility to schizophrenia.

PMID 15662599 2005 Functional consequences of PRODH missense mutations.

rs2238732 in PRODH gene and Threonine measurement PMID 30659259 2019 Genetic basis for plasma amino acid concentrations based on absolute quantification: a genome-wide association study in the Japanese population.

rs2238732 in PRODH gene and Tyrosine measurement PMID 30659259 2019 Genetic basis for plasma amino acid concentrations based on absolute quantification: a genome-wide association study in the Japanese population.

rs2238732 in PRODH gene and blood phenylalanine measurement by Guthrie microbiologic assay PMID 30659259 2019 Genetic basis for plasma amino acid concentrations based on absolute quantification: a genome-wide association study in the Japanese population.