メバロン酸キナーゼのソースを表示

{{enzyme
| Name = メバロン酸キナーゼ
| EC_number = 2.7.1.36
| CAS_number = 9026-52-2
| IUBMB_EC_number = 2/7/1/36
| GO_code = 0004496
| image = MevalonateKinase.png
| width =
| caption = [[黄色ブドウ球菌]]のメバロン酸キナーゼの結晶構造<ref name="pmid20419351">{{PDB|2X7I}}; {{cite journal | author = Oke M, Carter LG, Johnson KA, Liu H, McMahon SA, Yan X, Kerou M, Weikart ND, Kadi N, Sheikh MA, Schmelz S, Dorward M, Zawadzki M, Cozens C, Falconer H, Powers H, Overton IM, van Niekerk CA, Peng X, Patel P, Garrett RA, Prangishvili D, Botting CH, Coote PJ, Dryden DT, Barton GJ, Schwarz-Linek U, Challis GL, Taylor GL, White MF, Naismith JH | title = The Scottish Structural Proteomics Facility: targets, methods and outputs | journal = J. Struct. Funct. Genomics | volume = 11 | issue = 2 | pages = 167-80 |date=June 2010 | pmid = 20419351 | pmc = 2883930 | doi = 10.1007/s10969-010-9090-y | url = | issn = }}</ref>
}}
{{Infobox_gene}}
'''メバロン酸キナーゼ'''（Mevalonate kinase）は、[[テルペン|イソプレノイド]][[生合成]]経路の一つである[[メバロン酸経路]]の4番目の[[酵素]]である。ヒトにおいて''MVK''[[遺伝子]]でコードされる<ref name="entrez">{{cite web | title = Entrez Gene: mevalonate kinase| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=4598| accessdate = 2015-1-26}}</ref><ref name="pmid1377680">{{cite journal | author = Schafer BL, Bishop RW, Kratunis VJ, Kalinowski SS, Mosley ST, Gibson KM, Tanaka RD | title = Molecular cloning of human mevalonate kinase and identification of a missense mutation in the genetic disease mevalonic aciduria | journal = J. Biol. Chem. | volume = 267 | issue = 19 | pages = 13229-38 |date=July 1992 | pmid = 1377680 | doi = | url = | issn = }}</ref>。[[細菌]]から[[哺乳類]]まで幅広い生物で見られる。この酵素は、以下の[[化学反応]]を[[触媒]]する。
[[ファイル:Mevalonate kinase reaction.svg|650px|thumb|center|[[アデノシン三リン酸|ATP]] + (''R'')-[[メバロン酸]] <math>\rightleftharpoons</math> [[アデノシン二リン酸|ADP]] + (''R'')-5-[[ホスホメバロン酸]]]]

==機能==
[[メバロン酸]]は、イソプレノイド及びステロールの生合成において鍵となる中間体であり、メバロン酸キナーゼは初期段階の鍵となる酵素である<ref name="entrez"/>。メバロン酸を[[リン酸化]]して、[[5-ホスホメバロン酸]]を産生する<ref>{{Cite journal|last=Mulders-Manders|first=C. M.|last2=Simon|first2=A.|date=2015-07|title=Hyper-IgD syndrome/mevalonate kinase deficiency: what is new?|url=https://www.ncbi.nlm.nih.gov/pubmed/25990874|journal=Seminars in Immunopathology|volume=37|issue=4|pages=371–376|doi=10.1007/s00281-015-0492-6|issn=1863-2300|pmid=25990874|pmc=4491100}}</ref>。メバロン酸キナーゼ活性の5–10%の低下は{{仮リンク|メバロン酸キナーゼ欠損症|en|Mevalonate kinase deficiency|label=}}と関係しており、メバロン酸経路の中間体であるメバロン酸が蓄積する<ref name=":0">{{Cite journal|last=Stabile|first=Achille|last2=Compagnone|first2=Adele|last3=Napodano|first3=Salvatore|last4=Raffaele|first4=Carmela Gerarda Luana|last5=Patti|first5=Maria|last6=Rigante|first6=Donato|date=2013-12|title=Mevalonate kinase genotype in children with recurrent fevers and high serum IgD level|url=https://www.ncbi.nlm.nih.gov/pubmed/23239036|journal=Rheumatology International|volume=33|issue=12|pages=3039–3042|doi=10.1007/s00296-012-2577-z|issn=1437-160X|pmid=23239036}}</ref>。

メバロン酸キナーゼはメバロン酸経路の5番目および6番目の酵素とはアミノ酸配列が相同であり、いずれも共通祖先から分岐したと考えられる（GHMPファミリー）。
{|
|[[ファイル:Mevalonate pathway.png|320px|thumb|[[メバロン酸経路]]]]
|}

==臨床上の重要性==
この酵素の異常は、発熱を繰り返す[[高IgD症候群]]と関連がある<ref>{{OMIM|260920}}</ref>。

メバロン酸キナーゼ欠損症はこの遺伝子の変異によって生じ、{{仮リンク|精神運動発達遅滞|en|Psychomotor retardation|label=}}、発育不良、{{仮リンク|肝脾腫|en|Hepatosplenomegaly|label=}}、[[貧血]]、再発性の発熱などで特徴づけられる、[[メバロン酸尿症]]を引き起こす。また、この遺伝子の欠損は周期性発熱を伴う高IgD症候群を引き起こし、この疾患は{{仮リンク|リンパ節腫脹|en|Lymphadenopathy|label=}}、[[関節痛]]、胃腸の異常、皮膚の発疹を伴う再発性の発熱によって特徴づけられる<ref name="entrez" />。疾患の症状は典型的には幼児期から始まり、ストレスや細菌感染によってさらに活発になる。メバロン酸キナーゼ欠損症を正確に診断するための十分な科学的データが現時点ではないため、長い間診断がなされていない状態となっている可能性がある<ref name=":0" />。

==出典==
{{reflist}}

==関連文献==
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{{refend}}

== 関連項目 ==
*[[メバロン酸]]
*[[メバロン酸尿症]]

==外部リンク==
* {{MeshName|mevalonate+kinase}}

{{メバロン酸経路}}
{{デフォルトソート:めはろんさんきなあせ}}
[[Category:EC 2.7.1]]