MTHFR

MTHFR
Рәвеш
Нинди таксонда бар H. sapiens[1]
Кодлаучы ген Метилентетрагидрофолатредуктаза[d][1]
Молекуляр функция flavin adenine dinucleotide binding[d][2][3], methylenetetrahydrofolate reductase (NAD(P)H) activity[d][2][4][5][…], modified amino acid binding[d][6], активность катализатора[d][2], NADP binding[d][2], oxidoreductase activity[d][2] һәм protein-containing complex binding[d][7]
Күзәнәк компоненты цитозоль[d][2][2][2] һәм синапс[2]
Биологик процесс response to amino acid[d][2], response to interleukin-1[d][2], response to hypoxia[d][2], cellular amino acid metabolic process[d][4], tetrahydrofolate interconversion[d][5][3][8][…], S-adenosylmethionine metabolic process[d][2], Кан әйләнеше[4], tetrahydrofolate metabolic process[d][2], methionine metabolic process[d][8][2], regulation of histone methylation[d][7], response to vitamin B2[d][2], folic acid metabolic process[d][2], homocysteine metabolic process[d][2][6], response to folic acid[d][2] һәм Метаболизм[2]
Изображение Gene Atlas
 MTHFR Викиҗыентыкта

MTHFR (ингл. ) — аксымы, шул ук исемдәге ген тарафыннан кодлана торган югары молекуляр органик матдә.[9][10]

Искәрмәләр

  1. ↑ 1,0 1,1 UniProt
  2. ↑ 2,00 2,01 2,02 2,03 2,04 2,05 2,06 2,07 2,08 2,09 2,10 2,11 2,12 2,13 2,14 2,15 2,16 2,17 2,18 2,19 GOA
  3. ↑ 3,0 3,1 Rozen R. Characterization of mutations in severe methylenetetrahydrofolate reductase deficiency reveals an FAD-responsive mutation // Hum. Mutat. — Wiley, 2003. — ISSN 1059-7794; 1098-1004 — doi:10.1002/HUMU.10193 — PMID:12673793
  4. ↑ 4,0 4,1 4,2 Blom H. J. A candidate genetic risk factor for vascular disease: a common mutation in methylenetetrahydrofolate reductase // Nature Genetics / M. Axton, T. Faial — NPG, 1995. — ISSN 1061-4036; 1546-1718 — doi:10.1038/NG0595-111 — PMID:7647779
  5. ↑ 5,0 5,1 Giunta C., Sokolová J., Vlášková H. et al. Insights into severe 5,10-methylenetetrahydrofolate reductase deficiency: molecular genetic and enzymatic characterization of 76 patients // Hum. Mutat. — Wiley, 2015. — ISSN 1059-7794; 1098-1004 — doi:10.1002/HUMU.22779 — PMID:25736335
  6. ↑ 6,0 6,1 Collins R., Watkins H., Paré G. et al. Novel associations of CPS1, MUT, NOX4, and DPEP1 with plasma homocysteine in a healthy population: a genome-wide evaluation of 13 974 participants in the Women's Genome Health Study // Circulation: Cardiovascular Genetics — Lippincott Williams & Wilkins, 2009. — ISSN 1942-325X; 1942-3268 — doi:10.1161/CIRCGENETICS.108.829804 — PMID:20031578
  7. ↑ 7,0 7,1 Xu X. MTHFR promotes heterochromatin maintenance // Biochem. Biophys. Res. Commun. — Academic Press, Elsevier, 2014. — ISSN 0006-291X; 1090-2104 — doi:10.1016/J.BBRC.2014.04.082 — PMID:24769206
  8. ↑ 8,0 8,1 X Shan, L Wang, R Hoffmaster et al. Functional characterization of human methylenetetrahydrofolate reductase in Saccharomyces cerevisiae // J. Biol. Chem. / L. M. Gierasch — Baltimore [etc.]: American Society for Biochemistry and Molecular Biology, 1999. — ISSN 0021-9258; 1083-351X; 1067-8816 — doi:10.1074/JBC.274.46.32613 — PMID:10551815
  9. ↑ HUGO Gene Nomenclature Commitee, HGNC:29223 (ингл.). әлеге чыганактан 2015-10-25 архивланган. 18 сентябрь, 2017 тикшерелгән.
  10. ↑ UniProt, Q9ULJ7 (ингл.). 18 сентябрь, 2017 тикшерелгән.

Чыганаклар

  • Степанов В.М. (2005). Молекулярная биология. Структура и функция белков. Москва: Наука. ISBN 5-211-04971-3.(рус.)
  • Bruce Alberts, Alexander Johnson, Julian Lewis, Martin Raff, Keith Roberts, Peter Walter (2002). Molecular Biology of the Cell (вид. 4th). Garland. ISBN 0815332181.(ингл.)

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