Ask about this productRelated genes to: ETFB Blocking Peptide
- Gene:
- ETFB NIH gene
- Name:
- electron transfer flavoprotein subunit beta
- Previous symbol:
- -
- Synonyms:
- -
- Chromosome:
- 19q13.41
- Locus Type:
- gene with protein product
- Date approved:
- 1990-06-11
- Date modifiied:
- 2018-04-23
Related products to: ETFB Blocking Peptide
Related articles to: ETFB Blocking Peptide
- Multiple Acyl-CoA Dehydrogenase Deficiency (MADD) is an autosomal recessive inborn error of metabolism caused by biallelic pathogenic variants in one of three known genes: ETFA, ETFB, and ETFDH. It can cause multisystem dysfunction, including cardiomyopathy in severe cases. Ketone supplementation has been reported to be beneficial in a few case reports, but its long-term effectiveness remains unclear. We report an infant with a clinical and biochemical diagnosis of MADD who showed a favorable response to ketone supplementation, with marked improvement in severe cardiac dysfunction and sustained near-normal cardiac function and biochemical profiles over 3.5 years. Although genome sequencing did not identify causative variants, RNA sequencing revealed reduced ETFB transcript levels, and western blot analysis showed decreased ETFB protein levels. This case report illustrates MADD without an identified molecular diagnosis and provides evidence that near-absent ETFB expression is likely responsible for his presentation. These observations can guide further studies investigating the transcriptional regulation of ETFB, thereby elucidating an underappreciated molecular mechanism underlying MADD. Initiating metabolic therapy in patients with clinically suspected MADD, even in the absence of a confirmed molecular diagnosis, can be beneficial as suggested by the clinical and biochemical responses to our therapeutic trial. - Source: PubMed
Publication date: 2026/04/27
Furuta YutakaBloom Kaitlyn NVockley JerryGrochowsky Angela RAgrawal Neena SStrickler Ellen WOwen Natalie NGray Erica TPerera B Lakshitha AGamazon Eric RRives Lynette CChen Hua-ChangLiu QiHamid RizwanCogan Joy DPhillips John ACassini Thomas ASchuler Bryce A - The STARD10 gene encodes for a lipid transfer protein and is associated with type 2 diabetes (T2D) risk and β cell function. However, the role of STARD10 in human β cell development and function are still unclear. Here, we deleted STARD10 in human embryonic stem cells and differentiated them into β-like cells. The deletion of STARD10 reduced the formation of INS β-like cells and proliferation. Lipidomics analyses revealed that STARD10-null β-like cells had higher triglyceride levels. Consistently, the expression levels of ETFB, which is involved in fatty acid β-oxidation, were severely reduced in STARD10-null β-like cells. STARD10-null β-like cells also had reduced glycolytic function, mitochondrial oxidative phosphorylation, and palmitate oxidation, which can likely contribute to slower proliferation and β cell dysfunction. Overall, our findings provided further insights into the role of STARD10 in human β cell development and function, and how its loss-of-function can contribute to increased T2D risk. - Source: PubMed
Publication date: 2026/02/12
Tan Wei XuanAmirruddin Nur ShabrinaLim Euodia Xi HuiHu MingMuralidharan SnehaBenke Peter ITorta FedericoHoon ShawnSoetedjo Andreas Alvin PLau Hwee HuiNg Natasha H JRutter Guy ATeo Adrian Kee Keong - Blackground/Objectives: Tributyrin (TB), a stable derivative of butyric acid, has been widely used in animal feeds for its health-promoting effects. This study evaluated the efficacy of dietary TB serving as a functional feed additive in enhancing intestinal health of mandarin fish (), with a focus on elucidating the associated molecular mechanisms. - Source: PubMed
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Xu Er-XueLi Hao-YuHou Zhi-GuangXu Yi-HuanWu JunBao Teng-FeiWu Cheng-BinGao Xiao-WeiTan Yan-Miao - Acute myeloid leukemia (AML), a biologically heterogeneous malignancy, requires improved prognostic models, particularly for patients with intermediate-risk profiles and lacking definitive genetic markers. Therefore, this study aims to identify biologically coherent and clinically informative gene signatures using a novel prognostic modeling approach integrating gene expression profiles with protein–protein interaction networks. - Source: PubMed
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Song Jong KeonKim HyeryHwang Sang-Hyun - Sarcopenia, the age-related loss of muscle mass and function, significantly impacts health outcomes in older adults. Despite its prevalence, molecular diagnostics and targeted therapies remain limited due to incomplete understanding of its pathophysiology. - Source: PubMed
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