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Last update 08 May 2025

BCAT2

Last update 08 May 2025

Basic Info

Synonyms

BCAM, BCAT(m), BCAT2

+ [8]

Introduction

Catalyzes the first reaction in the catabolism of the essential branched chain amino acids leucine, isoleucine, and valine (PubMed:17050531, PubMed:25653144, PubMed:8702755). May also function as a transporter of branched chain alpha-keto acids (By similarity).

Drugs associated with BCAT2

BCAT2 Inhibitors(Agios)

Target

BCAT2

Mechanism

BCAT2 inhibitors

Active Org.

Agios Pharmaceuticals, Inc.

Originator Org.

Agios Pharmaceuticals, Inc.

Active Indication

Methylmalonic Acidemia [+1]

Inactive Indication-

Drug Highest PhasePreclinical

First Approval Ctry. / Loc.-

First Approval Date20 Jan 1800

GENA-111

Target

BCAT2

Mechanism

BCAT2 inhibitors

Active Org.

Genome & Co.

Originator Org.

Debiopharm International SA [+1]

Active Indication

Neoplasms

Inactive Indication-

Drug Highest PhasePreclinical

First Approval Ctry. / Loc.-

First Approval Date20 Jan 1800

BAY-069

Target

BCAT1 x BCAT2

Mechanism

BCAT1 inhibitors [+1]

Active Org.

Bayer AG

Originator Org.

Bayer AG

Active Indication

Neoplasms

Inactive Indication-

Drug Highest PhaseDiscovery

First Approval Ctry. / Loc.-

First Approval Date20 Jan 1800

100 Clinical Results associated with BCAT2

100 Translational Medicine associated with BCAT2

0 Patents (Medical) associated with BCAT2

282

Literatures (Medical) associated with BCAT2

01 Jun 2025·Molecular Genetics and Metabolism Reports

Branched-chain amino acid transferase type 2 (BCAT2) deficiency: Report of an eighth case and literature review

Article

Author: Keren, Boris ; Imbard, Apolline ; Benoist, Jean-François ; Mondésert, Etienne ; Pontoizeau, Clément ; Mansat, Charlotte ; Barcia, Guilia ; Schiff, Manuel ; Mannes, Inès ; Bouchereau, Juliette

Branched-chain amino acid transferase type 2 (BCAT2) deficiency is a rare autosomal recessive genetic condition, with only seven cases described to date. It results in an elevation of branched-chain amino acid (BCAA) plasma concentrations, predominantly on valine, with normal concentration of plasma allo-isoleucine and urine branched-chain α-keto acids (BCKA). Despite this constant biochemical feature, clinical consequences remain unclear with heterogeneous and far less severe than maple syrup urine disease (MSUD) reported phenotypes, one individual being even asymptomatic. We report herein the eighth case of genetically confirmed BCAT2 deficiency, accompanied by a literature review and a discussion about the potential pathogenicity of this condition. An 11-year-old boy presented with a rapidly reversible initial acute neurological episode suggesting an epileptic seizure. Abnormalities on cerebral magnetic resonance imaging and suspicion of cognitive impairment led to further metabolic investigations. BCAT2 deficiency has been mentioned in front of increased BCAAs (valine = 1667 μmol/L, leucine = 701 μmol/L, isoleucine = 561 μmol/L). A homozygous novel nonsense variant on BCAT2 (c.34C > T, p.Arg12*) was found on whole exome sequencing. After oral pyridoxine supplementation (200 mg/day), a decrease in BCAA concentrations was observed (valine = 984 μmol/L, leucine = 462 μmol/L, isoleucine = 302 μmol/L). Laboratory and imaging findings were consistent with previously reported cases. However, clinical presentation of this case was atypical and could be related with epilepsy, although no other variant on epilepsy genes have been found. The relation between BCAT2 deficiency and these clinical findings is at this stage debated with regard to phenotypic variability. Further case-studies are needed to expand the knowledge about this condition.

03 Mar 2025·Molecular Cancer Research

Gut Microbiota–Mediated hsa_circ_0126925 Targets BCAA Metabolic Enzyme BCAT2 to Exacerbate Colorectal Cancer Progression

Article

Author: Tai, Qingliang ; Sun, Liang ; Shen, Danyang ; Zhong, Runze ; Shi, Bo ; Lu, Yang ; Zhou, Diyuan ; Zhou, Aina ; Yao, Huihui ; Dong, Qiuchen ; Shi, Xinyu ; Mi, Xiuwei ; Li, Mengyu ; Yao, Yizhou ; Yang, Xiaodong ; Xu, Jiancheng ; Chen, Guoliang ; He, Songbing

AbstractRecent evidence indicates that a high-fat diet can promote tumor development, especially colorectal cancer, by influencing the microbiota. Regulatory circular RNA (circRNA) plays an important role in modulating host–microbe interactions; however, the specific mechanisms by which circRNAs influence cancer progression by regulating these interactions remain unclear. Here, we report that consumption of a high-fat diet modulates the microbiota by specifically upregulating the expression of the noncoding RNA hsa_circ_0126925 (herein, referred to as circ_0126925) in colorectal cancer. Acting as a scaffold, circ_0126925 hinders the recruitment of the E3 ubiquitin ligase tripartite motif-containing protein 21 (TRIM21) to branched-chain amino acid transaminase 2 (BCAT2), leading to reduced degradation of BCAT2. This reduction in targeted degradation of BCAT2 can protect tumors from limited branched-chain amino acid (BCAA) interference by improving the metabolism of BCAAs in colorectal cancer. Taken together, these data demonstrate that circ_0126925 plays a critical role in promoting the progression of colorectal cancer by maintaining BCAA metabolism and provide insight into the functions and crosstalk of circ_0126925 in host–microbe interactions in colorectal cancer.Implications: This study preliminarily confirms that circRNAs do indeed respond to microbiota/microbial metabolites, providing further evidence for the potential development of circRNAs as diagnostic tools and/or therapeutic agents to alleviate microbiome-related pathology in humans.

10 Feb 2025·Theranostics

Spatial Metabolomics and Transcriptomics Reveal Metabolic Reprogramming and Cellular Interactions in Nasopharyngeal Carcinoma with High PD-1 Expression and Therapeutic Response

Article

Author: Ji, Lili ; Wang, Dujuan ; Zhuo, Guangzheng ; Chen, Zhe ; Zhang, Qian ; Wan, Yuhang ; Liu, Guohong ; Pan, Yunbao ; Wang, Liping

Nasopharyngeal carcinoma (NPC) is a heterogeneous cancer with variable therapeutic responses, highlighting the need to better understand the molecular factors influencing treatment outcomes. This study aims to explore spatially metabolic and gene expression alterations in NPC patients with different therapeutic responses and PD-1 expression levels. Methods: This study employs spatial metabolomics (SM) and spatial transcriptomics (ST) to investigate significant alterations in metabolic pathways and metabolites in NPC patients exhibiting therapeutic sensitivity or elevated programmed death 1 (PD-1) expression. The spatial distribution of various cell types within the TME and their complex interactions were also investigated. Identified prognostic targets were validated using public datasets from TCGA, and further substantiated by in vitro functional analyses. Results: SM analysis revealed substantial reprogramming in lipid metabolism, branched-chain amino acid (BCAA) metabolism, and glutamine metabolism, which were closely associated with therapeutic response and PD-1 expression. ST analysis highlighted the critical role of interactions between precursor T cells and malignant epithelial cells in modulating therapeutic response in NPC. Notably, six key genes involved in BCAA metabolism (IL4I1, OXCT1, BCAT2, DLD, ALDH1B1, HADH) were identified in distinguishing patients with therapeutic sensitivity from those with therapeutic resistance. Functional validation of DLD and IL4I1 revealed that gene silencing significantly inhibited NPC cell proliferation, colony formation, wound healing, and invasion. Silencing DLD or IL4I1 induced cell cycle arrest. Reduction in α-Ketomethylvaleric acid (KMV) levels was demonstrated upon IL4I1 silencing. Immunohistochemical analysis further confirmed that high expression of these six genes was significantly associated with poor prognosis in NPC patients, a trend corroborated by data from the TCGA head and neck cancer cohort. Conclusions: This study highlights the pivotal roles of key molecular players in therapeutic response in NPC, providing compelling evidence for their potential application as prognostic biomarkers and therapeutic targets, thereby contributing to precision oncology strategies aimed at improving patient outcomes.

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