ホスホグリセリン酸デヒドロゲナーゼ
D-3-ホスホグリセリン酸デヒドロゲナーゼ（D-3-phosphoglycerate dehydrogenase）は、ヒトではPHGDH遺伝子にコードされている酵素である[1]。
この酵素はNAD+を補因子として、3-ホスホグリセリン酸を3-ホスホノオキシピルビン酸へ、2-ヒドロキシグルタル酸を2-オキソグルタル酸へ変換する酸化還元酵素である。
この酵素が欠乏する遺伝子疾患ではアミノ酸のセリンが合成される経路が障害され精神遅滞や小頭症などを引き起こす。[2]
脚注 編集
- ^ “Entrez Gene: PHGDH phosphoglycerate dehydrogenase”. 2007年12月20日閲覧。
- ^ “An update on serine deficiency disorders”. Journal of inherited metabolic disease 36 (4). (2013). doi:10.1007/s10545-013-9592-4. PMID 23463425.
参考文献 編集
- Tsang HT, Connell JW, Brown SE, et al. (2006). “A systematic analysis of human CHMP protein interactions: additional MIT domain-containing proteins bind to multiple components of the human ESCRT III complex.”. Genomics 88 (3): 333–46. doi:10.1016/j.ygeno.2006.04.003. PMID 16730941.
- Gregory SG, Barlow KF, McLay KE, et al. (2006). “The DNA sequence and biological annotation of human chromosome 1.”. Nature 441 (7091): 315–21. doi:10.1038/nature04727. PMID 16710414.
- Guo D, Han J, Adam BL, et al. (2005). “Proteomic analysis of SUMO4 substrates in HEK293 cells under serum starvation-induced stress.”. Biochem. Biophys. Res. Commun. 337 (4): 1308–18. doi:10.1016/j.bbrc.2005.09.191. PMID 16236267.
- 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.
- 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.
- 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.
- Pind S, Slominski E, Mauthe J, et al. (2002). “V490M, a common mutation in 3-phosphoglycerate dehydrogenase deficiency, causes enzyme deficiency by decreasing the yield of mature enzyme.”. J. Biol. Chem. 277 (9): 7136–43. doi:10.1074/jbc.M111419200. PMID 11751922.
- Klomp LW, de Koning TJ, Malingré HE, et al. (2001). “Molecular characterization of 3-phosphoglycerate dehydrogenase deficiency--a neurometabolic disorder associated with reduced L-serine biosynthesis.”. Am. J. Hum. Genet. 67 (6): 1389–99. doi:10.1086/316886. PMID 11055895.
- Pineda M, Vilaseca MA, Artuch R, et al. (2000). “3-phosphoglycerate dehydrogenase deficiency in a patient with West syndrome.”. Developmental medicine and child neurology 42 (9): 629–33. doi:10.1017/S0012162200001171. PMID 11034457.
- Baek JY, Jun DY, Taub D, Kim YH (2000). “Assignment of human 3-phosphoglycerate dehydrogenase (PHGDH) to human chromosome band 1p12 by fluorescence in situ hybridization.”. Cytogenet. Cell Genet. 89 (1-2): 6–7. doi:10.1159/000015577. PMID 10894924.
- Cho HM, Jun DY, Bae MA, et al. (2000). “Nucleotide sequence and differential expression of the human 3-phosphoglycerate dehydrogenase gene.”. Gene 245 (1): 193–201. doi:10.1016/S0378-1119(00)00009-3. PMID 10713460.
- Jaeken J, Detheux M, Van Maldergem L, et al. (1996). “3-Phosphoglycerate dehydrogenase deficiency: an inborn error of serine biosynthesis.”. Arch. Dis. Child. 74 (6): 542–5. doi:10.1136/adc.74.6.542. PMID 8758134.