Gene ID: 593 种属 Homo sapiens 基因序列编号: NM_000709.4 基因描述 Homo sapiens branched chain keto acid dehydrogenase E1 subunit alpha (BCKDHA), transcript variant 1, mRNA; nuclear gene for mitochondrial product DNA编码区: atggcggtagcgatcgctgcagcgagggtctggcggctaaaccgtggtttgagccaggct gccctcctgct...
Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009] 基因突变所影响的基因信息 支链α-酮酸(BCAA)脱氢酶(BCKD)复合物是一种线粒体内酶复合物,可催化分支链氨基酸亮氨酸,异亮氨酸和缬氨酸分解代谢的第二个主要步骤。BCKD配合物由三个催化成分...
Molecular Analysis of the BCKDHA Gene in an Egyptian Patient with MSUD Acidemia: Case ReportMagdy Mohamed Mahmoud HassanNahla Samir HassanEhab Abd Elsalam MahmoudAhmed Mohamed MoseilhyDina Mohamed SeoudiOsama Kamal Zaki
2024年10月,周丽斌研究员在《Cell Death & Disease》【IF8.1,Q1】杂志发表题名为“BCKDH kinase promotes hepatic gluconeogenesis independent of BCKDHA.”——BCKDH激酶对肝脏糖异生的促进作用不依赖于BCKDHA的研究论文。 瑞金医院/上海...
branched chain keto acid dehydrogenase E1, alpha polypeptide (BCKDHA), the gene encoding the regulated subunit of BCKDC was only one of two primary susceptibility genes identified that affected the risk of both type 2 diabetes mellitus (T2DM) and obesity. BIX01294 transcriptionally downregulated the...
Maple syrup urine disease (MSUD) is an autosomal recessive metabolic disorder affecting branched-chain amino acids. Mutations in the BCKDHA , BCKDHB , and DBT gene impair the branched-chain alpha-ketoacid dehydrogenase (BCKD) complex, resulting in the ac
IsotypeIgG StorageAliquot and store at -20°C. Avoid repeated freeze/thaw cycles. Molecular WeightCalculated MW: 50 kDa Observed MW: 50 kDa Swiss ProtP12694 GeneID593 Gene SymbolBCKDHA Concentration> 1 mg/ml BufferPBS, pH 7.3, 0.02% sodium azide, 50% glycerol. ...
miR-194-5pBCKDHA基因miRNA预测3T3-L1靶基因验证This study aimed to predict and validate the crucial miRNA regulating BCKDHA gene expression,where BCKDHA was α subunit of BCKDH (Branched-chain α-ketoacid dehydrogenase complex),which was a key rate-limiting enzyme in the catabolism of branched-chain...
The BCKDHB gene was the most commonly affected (45.2%) compared to BCKDHA gene (16.1%) and DBT gene (38.7%). In silico webservers predicted all mutations were disease-causing. In addition, structural evaluation disclosed that all new missenses in BCKDHA, BCKDHB and DBT genes affected ...
Whereas, gluconeogenic gene expressions were not altered in BCKDHA-silenced hepatocytes. Mechanistically, BT2 treatment attenuated the interaction of cAMP response element binding protein (CREB) with CREB-binding protein and promoted FOXO1 protein degradation by increasing its ubiquitination. Our findings ...