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Article

Functional consequences of PRODH missense mutations.

American journal of human genetics - 1 Mar 2005

Bender Hans-Ulrich, Almashanu Shlomo, Steel Gary, Hu Chien-An, Lin Wei-Wen, Willis Alecia, Pulver Ann, Valle David

Abstract excerpt

PRODH maps to 22q11 in the region deleted in the velocardiofacial syndrome/DiGeorge syndrome (VCFS/DGS) and encodes proline oxidase (POX), a mitochondrial inner-membrane enzyme that catalyzes the first step in the proline degradation pathway. At least 16 PRODH missense mutations have been identified in studies of type I hyperprolinemia (HPI) and schizophrenia, 10 of which are present at polymorphic frequencies....

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Source

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Identifiers

PMID: 15662599
DOI: 10.1086/428142
PMCID: PMC1196393

Genes

PRODH

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Functional consequences of PRODH missense mutations.PMID 15662599Read ↗

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