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Proline dehydrogenase (oxidase) 1, also known as PRODH, is a human gene.[1]
The protein encoded by this gene is a mitochondrial proline dehydrogenase which catalyzes the first step in proline catabolism. Deletion of this gene has been associated with type I hyperprolinemia. The gene is located on chromosome 22q11.21, a region which has also been associated with the contiguous gene deletion syndromes DiGeorge syndrome and CATCH22 syndrome.[1]
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[edit] Further reading
- Polyak K, Xia Y, Zweier JL, et al. (1997). "A model for p53-induced apoptosis.". Nature 389 (6648): 300-5. doi:10.1038/38525. PMID 9305847.
- Campbell HD, Webb GC, Young IG (1997). "A human homologue of the Drosophila melanogaster sluggish-A (proline oxidase) gene maps to 22q11.2, and is a candidate gene for type-I hyperprolinaemia.". Hum. Genet. 101 (1): 69-74. PMID 9385373.
- Gogos JA, Santha M, Takacs Z, et al. (1999). "The gene encoding proline dehydrogenase modulates sensorimotor gating in mice.". Nat. Genet. 21 (4): 434-9. doi:10.1038/7777. PMID 10192398.
- Donald SP, Sun XY, Hu CA, et al. (2001). "Proline oxidase, encoded by p53-induced gene-6, catalyzes the generation of proline-dependent reactive oxygen species.". Cancer Res. 61 (5): 1810-5. PMID 11280728.
- Liu H, Heath SC, Sobin C, et al. (2002). "Genetic variation at the 22q11 PRODH2/DGCR6 locus presents an unusual pattern and increases susceptibility to schizophrenia.". Proc. Natl. Acad. Sci. U.S.A. 99 (6): 3717-22. doi:10.1073/pnas.042700699. PMID 11891283.
- Jacquet H, Raux G, Thibaut F, et al. (2003). "PRODH mutations and hyperprolinemia in a subset of schizophrenic patients.". Hum. Mol. Genet. 11 (19): 2243-9. PMID 12217952.
- Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899-903. doi:10.1073/pnas.242603899. PMID 12477932.
- Maxwell SA, Rivera A (2003). "Proline oxidase induces apoptosis in tumor cells, and its expression is frequently absent or reduced in renal carcinomas.". J. Biol. Chem. 278 (11): 9784-9. doi:10.1074/jbc.M210012200. PMID 12514185.
- Jacquet H, Berthelot J, Bonnemains C, et al. (2003). "The severe form of type I hyperprolinaemia results from homozygous inactivation of the PRODH gene.". J. Med. Genet. 40 (1): e7. PMID 12525555.
- Williams HJ, Williams N, Spurlock G, et al. (2004). "Detailed analysis of PRODH and PsPRODH reveals no association with schizophrenia.". Am. J. Med. Genet. B Neuropsychiatr. Genet. 120 (1): 42-6. doi:10.1002/ajmg.b.20049. PMID 12815738.
- Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs.". Nat. Genet. 36 (1): 40-5. doi:10.1038/ng1285. PMID 14702039.
- Li T, Ma X, Sham PC, et al. (2005). "Evidence for association between novel polymorphisms in the PRODH gene and schizophrenia in a Chinese population.". Am. J. Med. Genet. B Neuropsychiatr. Genet. 129 (1): 13-5. doi:10.1002/ajmg.b.30049. PMID 15274030.
- Zhang M, White TA, Schuermann JP, et al. (2004). "Structures of the Escherichia coli PutA proline dehydrogenase domain in complex with competitive inhibitors.". Biochemistry 43 (39): 12539-48. doi:10.1021/bi048737e. PMID 15449943.
- Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121-7. doi:10.1101/gr.2596504. PMID 15489334.
- Jacquet H, Demily C, Houy E, et al. (2005). "Hyperprolinemia is a risk factor for schizoaffective disorder.". Mol. Psychiatry 10 (5): 479-85. doi:10.1038/sj.mp.4001597. PMID 15494707.
- Bender HU, Almashanu S, Steel G, et al. (2005). "Functional consequences of PRODH missense mutations.". Am. J. Hum. Genet. 76 (3): 409-20. doi:10.1086/428142. PMID 15662599.
- Rivera A, Maxwell SA (2005). "The p53-induced gene-6 (proline oxidase) mediates apoptosis through a calcineurin-dependent pathway.". J. Biol. Chem. 280 (32): 29346-54. doi:10.1074/jbc.M504852200. PMID 15914462.
- Pandhare J, Cooper SK, Phang JM (2006). "Proline oxidase, a proapoptotic gene, is induced by troglitazone: evidence for both peroxisome proliferator-activated receptor gamma-dependent and -independent mechanisms.". J. Biol. Chem. 281 (4): 2044-52. doi:10.1074/jbc.M507867200. PMID 16303758.
- Liu Y, Borchert GL, Surazynski A, et al. (2006). "Proline oxidase activates both intrinsic and extrinsic pathways for apoptosis: the role of ROS/superoxides, NFAT and MEK/ERK signaling.". Oncogene 25 (41): 5640-7. doi:10.1038/sj.onc.1209564. PMID 16619034.
- Li D, He L (2006). "Association study of the G-protein signaling 4 (RGS4) and proline dehydrogenase (PRODH) genes with schizophrenia: a meta-analysis.". Eur. J. Hum. Genet. 14 (10): 1130-5. doi:10.1038/sj.ejhg.5201680. PMID 16791139.
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