Translations:Enzyme/98/ja: Difference between revisions

Revision as of 11:45, 22 February 2024

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Message definition (Enzyme)

=== Involvement in disease ===
[[File:Phenylalanine hydroxylase mutations.svg|thumb|upright=2|alt= Ribbon diagram of phenylalanine hydroxylase with bound cofactor, coenzyme and substrate|In [[phenylalanine hydroxylase]] over 300 different mutations throughout the structure cause [[phenylketonuria]]. [[Phenylalanine]] substrate and [[tetrahydrobiopterin]] coenzyme in black, and [[Iron|Fe<sup>2+</sup>]] cofactor in yellow. ({{PDB|1KW0}})]]
[[File:Autosomal recessive inheritance for affected enzyme.png|thumb|upright=1.4|Hereditary defects in enzymes are generally inherited in an [[autosomal inheritance|autosomal]] fashion because there are more non-X chromosomes than X-chromosomes, and a [[recessive inheritance|recessive]] fashion because the enzymes from the unaffected genes are generally sufficient to prevent symptoms in carriers.]]
{{see also|Genetic disorder}}

疾患への関与

フェニルアラニン水酸化酵素のリボン図と結合した補酵素、補酵素、基質

フェニルアラニン水酸化酵素では、構造全体にわたって300以上の異なる変異がフェニルケトン尿症を引き起こす。黒がフェニルアラニン基質とテトラヒドロビオプテリン補酵素、黄色がFe²⁺補酵素である。(PDB: 1KW0)

File:File:Autosomal recessive inheritance for affected enzyme.png

酵素の遺伝的欠陥は一般的に、非X染色体がX染色体よりも多いために染色体遺伝する傾向があり、また、無効な遺伝子からの酵素が通常の遺伝子から来る酵素に比べて十分であるため、それが担体に症状を防ぐことができるため、劣性遺伝する傾向がある。

Translations:Enzyme/98/ja: Difference between revisions

Revision as of 11:45, 22 February 2024

疾患への関与

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