2024年12月24日 · BCKDHB (Branched Chain Keto Acid Dehydrogenase E1 Subunit Beta) is a Protein Coding gene. Diseases associated with BCKDHB include Maple Syrup Urine Disease, Type Ib and Maple Syrup Urine Disease, Type Ia. Among its related pathways are 2-oxoisovalerate decarboxylation to isobutanoyl-CoA and …

The BCKDHB gene provides instructions for making one part, the beta 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 · we describe the presenting symptoms and clinical course of a Chinese boy with intermittent Intermittent maple syrup urine disease from BCKDHB gene mutation; Mutations in BCKDHB gene is associated with maple syrup urine disease. BCKDHA and BCKDHB mutations might be primarily responsible for maple syrup urine disease in the Indian population.

Branched-chain keto acid dehydrogenase is a multienzyme complex associated with the inner membrane of mitochondria, and functions in the catabolism of branched-chain amino acids.

BCAAs分解代谢起始步骤为 BCAT1 / BCAT2 转氨酶催化的转胺反应，生成支链酮酸，然后在BCKA脱氢酶（BCKDH）复合体的催化下进行不可逆氧化脱羧反应，其产物是酰基辅酶，最后发生类似于脂肪酸氧化的反应，最终产物进入三羧酸循环供能。 多项研究表明支链氨基酸与癌症进展密切相关，然而，相关的分子机制尚未研究清楚并存在争议。 除了致癌基因突变及组织异质性之外，肿瘤周围的营养微环境也可能影响支链氨基酸分解代谢发挥致癌或抑癌作用。 因此，明确 …

2025年2月26日 · In summary, we developed a one-time BCKDHA-BCKDHB systemic dual-gene replacement strategy that holds promise as a therapeutic alternative to prescription diet and liver transplant for treatment of MSUD types 1A and 1B, the …

该基因的突变与 1B 型枫糖浆尿病 (MSUD) 相关，这种疾病的特征是尿液中有枫糖浆气味，此外还会导致精神和身体发育迟缓以及喂养问题。 在此位点的可变剪接导致多个转录本变体。 [RefSeq 提供，2016 年 1 月] This gene encodes the E1 beta subunit of branched-chain keto acid dehydrogenase, which is a multienzyme complex associated with …

BCKDHB is a prognostic marker in Bladder urothelial carcinoma, Kidney renal clear cell carcinoma, Ovary serous cystadenocarcinoma, Rectum adenocarcinoma

2007年6月14日 · The second major step in the catabolism of the branched-chain amino acids, isoleucine, leucine, and valine, is catalyzed by the branched-chain alpha-keto acid dehydrogenase complex (BCKD; EC 1.2.4.4), an inner-mitochondrial enzyme complex that consists of 3 catalytic components: a heterotetrameric (alpha2, beta2) …

2024年4月11日 · Clinical resource with information about BCKDHB, Genome-wide association analyses suggest NELL1 influences adverse metabolic response to HCTZ in African Americans., Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture., Maple syrup urine disease, Maple syrup urine disease ...