Английская Википедия:DBT (gene)

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Версия от 19:38, 23 февраля 2024; EducationBot (обсуждение | вклад) (Новая страница: «{{Английская Википедия/Панель перехода}} {{Short description|Mammalian protein found in Homo sapiens}} {{Infobox_gene}} '''Lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial''' is an enzyme that in humans is encoded by the ''DBT'' gene.<ref name="pmid1420314">{{cite journal | vauthors = Lau KS, Chuang JL, Herring WJ, Danner DJ, Cox RP, Chuang DT | title = The co...»)
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Шаблон:Short description

Шаблон:Infobox gene Lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial is an enzyme that in humans is encoded by the DBT gene.[1][2][3]

The branched-chain alpha-keto acid dehydrogenase complex (BCKD) is an inner-mitochondrial enzyme complex involved in the breakdown of the branched-chain amino acids isoleucine, leucine, and valine. The BCKD complex is thought to be composed of a core of 24 transacylase (E2) subunits, and associated decarboxylase (E1), dehydrogenase (E3), and regulatory subunits. This gene encodes the transacylase (E2) subunit. Mutations in this gene result in maple syrup urine disease, type 2. Alternatively spliced transcript variants have been described, but their biological validity has not been determined.[3]

References

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Further reading

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Шаблон:Refend Шаблон:PDB Gallery Шаблон:Aldehyde/Oxo oxidoreductases Шаблон:Multienzyme complexes


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