Proline oxidase

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Proline dehydrogenase (oxidase) 1
Identifiers
Symbols PRODH ; HSPOX2; PIG6; POX; PRODH1; PRODH2; TP53I6
External IDs OMIM606810 MGI97770 HomoloGene40764 GeneCards: PRODH Gene
EC number 1.5.5.2
RNA expression pattern
PBB GE PRODH 214203 s at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 5625 19125
Ensembl ENSG00000100033 ENSMUSG00000003526
UniProt O43272 Q9WU79
RefSeq (mRNA) NM_001195226 NM_011172
RefSeq (protein) NP_001182155 NP_035302
Location (UCSC) Chr 22:
18.9 – 18.92 Mb
Chr 16:
18.06 – 18.09 Mb
PubMed search [1] [2]

Proline dehydrogenase, mitochondrial is an enzyme that in humans is encoded by the PRODH gene.[1][2][3]

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.[3]

References[edit]

  1. ^ Campbell HD, Webb GC, Young IG (Dec 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. doi:10.1007/s004390050589. PMID 9385373. 
  2. ^ Gogos JA, Santha M, Takacs Z, Beck KD, Luine V, Lucas LR, Nadler JV, Karayiorgou M (Apr 1999). "The gene encoding proline dehydrogenase modulates sensorimotor gating in mice". Nat Genet 21 (4): 434–9. doi:10.1038/7777. PMID 10192398. 
  3. ^ a b "Entrez Gene: PRODH proline dehydrogenase (oxidase) 1". 

Further reading[edit]

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