BCKDHA is a coding gene that is part of the BCKD complex (branched-chain alpha-keto acid dehydrogenase). BCKDHA was discovered by John Menkes in 1954. After he had seen a family with four children die only a few months after birth, he …

The BCKDHA gene provides instructions for making one part, the alpha subunit, of a group of enzymes called the branched-chain alpha-keto acid dehydrogenase (BCKD) enzyme complex. Learn about this gene and related health conditions.

2025年2月8日 · A list of nine primary candidate genes for T2D and five for obesity were identified in this paper. Two genes, LPL and BCKDHA, were common to these two sets. BCKDHA and BCKDHB mutations might be primarily responsible for …

2024年12月24日 · BCKDHA (Branched Chain Keto Acid Dehydrogenase E1 Subunit Alpha) is a Protein Coding gene. Diseases associated with BCKDHA include Maple Syrup Urine Disease, Type Ia and Intermediate Maple Syrup Urine Disease. Among its related pathways are Leucine, isoleucine and valine metabolism and 2-oxobutanoate degradation.

支链α-酮酸 (BCAA) 脱氢酶 (BCKD) 复合物是一种线粒体内酶复合物，可催化支链氨基酸亮氨酸、异亮氨酸和缬氨酸分解代谢的第二个主要步骤。 BCKD 复合物由三个催化组分组成：异四聚体 (alpha2-beta2) 支链 α-酮酸脱羧酶 (E1) 、二氢硫辛酰转酰酶 (E2) 和二氢硫辛酰胺脱氢酶 (E3) 。 该基因编码脱羧酶 (E1) 成分的 α 亚基。 该基因的突变会导致 IA 型枫糖尿症。 已发现该基因编码不同异构体的多个转录变体。 [RefSeq 提供，2009 年 9 月]

2024年10月10日 · The rate limiting enzyme of BCAA catabolism branched-chain α-ketoacid dehydrogenase (BCKDH) is phosphorylated at E1α subunit (BCKDHA) by its kinase (BCKDK) and inactivated. Here, the liver-specific BCKDK or BCKDHA knockout mice displayed normal glucose tolerance and insulin sensitivity.

2024年10月10日 · Elevated circulating branched-chain amino acids (BCAAs) are tightly linked to an increased risk in the development of type 2 diabetes mellitus. The rate limiting enzyme of BCAA catabolism...

BCAA降解的第二步是BCKA不可逆脱羧，由线粒体中的支链α-酮酸脱氢酶（BCKDH）复合体催化。 BCKDH复合体的活性取决于它的磷酸化状态，由支链α-酮酸脱氢酶激酶（BCKDK）和PPM1K磷酸酶共同调控。 BCKA最终降解生成乙酰辅酶A和琥珀酸辅酶A，进入TCA循环。 BCAA代谢在肿瘤细胞中的调控方式总结在Table 1中，大致包括转录水平调控、表观遗传调控以及直接改变蛋白质水平或酶活力等。 目前已知的BCAA代谢在多种癌症中的改变及对肿瘤发展的 …

2025年2月8日 · The branched-chain alpha-keto acid (BCAA) dehydrogenase (BCKD) complex is an innter mitochondrial enzyme complex that catalyzes the second major step in the catabolism of the branched-chain amino acids leucine, isoleucine, and valine.

2009年11月2日 · The BCKDHA gene encodes the E1-alpha subunit of the branched-chain alpha-keto acid (BCAA) dehydrogenase complex (BCKD; EC 1.2.4.4), an inner-mitochondrial enzyme complex that catalyzes the oxidative decarboxylation of the branched-chain alpha-ketoacids derived from isoleucine, leucine, and valine.