AS160 _ TBC1D4 Antibody
- Known as:
- AS160 _ TBC1D4 Antibody
- Catalog number:
- AF1117a
- Category:
- -
- Supplier:
- Abgen
- Gene target:
- AS160 _ TBC1D4 Antibody
Related genes to: AS160 _ TBC1D4 Antibody
- Gene:
- TBC1D4 NIH gene
- Name:
- TBC1 domain family member 4
- Previous symbol:
- -
- Synonyms:
- KIAA0603, AS160, DKFZp779C0666
- Chromosome:
- 13q22.2
- Locus Type:
- gene with protein product
- Date approved:
- 2002-08-29
- Date modifiied:
- 2015-11-18
Related products to: AS160 _ TBC1D4 Antibody
Related articles to: AS160 _ TBC1D4 Antibody
- Monogenic diabetes caused by TBC1D4 mutations is a relatively rare hereditary disorder of glucose metabolism that has increasingly gained attention in recent years. The protein encoded by this gene plays a pivotal regulatory role in glucose transport within skeletal muscle and adipose tissue; its dysfunction leads to significant insulin resistance and glucose dysregulation characterized by predominant postprandial hyperglycemia. Accumulating research indicates that TBC1D4 mutations may contribute to metabolic disturbances by impairing glucose transport and blunting cellular insulin sensitivity. Patients typically present in adolescence or young adulthood, often accompanied by metabolic comorbidities such as obesity, dyslipidemia, fatty liver, and hyperuricemia; some may also manifest acanthosis nigricans or polyendocrine metabolic ovarian syndrome (PMOS; formerly polycystic ovary syndrome)-like features. Due to frequent clinical misdiagnosis or underdiagnosis, a comprehensive evaluation incorporating age of onset, family history, glycemic characteristics, autoantibody status, and genetic testing is essential for accurate diagnosis. Currently, specific targeted therapies are lacking, and lifestyle intervention remains the cornerstone of management, with exercise intervention being particularly vital for improving insulin resistance. This review focuses on the molecular biological characteristics of the TBC1D4 gene and its encoded protein, mutation types, pathogenic mechanisms, clinical manifestations, and diagnostic strategies, as well as therapeutic advances. It aims to systematically summarize the research progress on TBC1D4-related monogenic diabetes to enhance clinical awareness and provide a reference for early identification, precise diagnosis, and individualized treatment. - Source: PubMed
Wang WenjingMa LidanDong BingziGao PeihanSun Xiaofang - - Source: PubMed
Publication date: 2026/07/29
Wu NaJing ZuoqianLv HuinaLiu QunGu MingZhong YifanXing PengMa RuiyangJing Yuchen - AS160 (TBC1D4) is a key regulator of glucose transporter trafficking and is frequently overexpressed in several malignancies. However, the mechanisms regulating its protein stability and its contribution to colon tumor metabolism remain poorly understood. Here, we identify a proteotoxic stress-responsive mechanism regulating AS160 abundance that involves crosstalk between the ubiquitin-proteasome system (UPS), ER stress-related signaling, and autophagy. Paradoxically, proteasome inhibition with MG132 resulted in a dose-dependent reduction of AS160 protein levels in both HCT116 and HT29 colon cancer cells, accompanied by the induction of ER stress markers and autophagy activation, including p62 accumulation and increased LC3-II/LC3-I ratios. In contrast, blockade of lysosomal degradation with chloroquine (CHQ) led to marked AS160 accumulation, suggesting that autophagy drives AS160 turnover under proteotoxic stress. Alleviating ER stress with 4-phenylbutyric acid (4-PBA) or scavenging reactive oxygen species with N-acetylcysteine (NAC) did not prevent AS160 loss following MG132 treatment. Functionally, shRNA-mediated knockdown of AS160 did not significantly alter glucose uptake or total GLUT1 protein levels; however, it increased lactate secretion accompanied by reciprocal changes in lactate transporters including upregulation of the lactate transporter MCT4 and downregulation of MCT1. Overall, our results suggest that the stability of AS160 protein is regulated through autophagy-associated pathways and that reduced AS160 expression is associated with altered lactate handling. Targeting pathways that regulate AS160 stability may therefore represent a strategy to modulate tumor metabolic adaptation. - Source: PubMed
Publication date: 2026/04/24
Reabroi SomrudeeSutjarit NareeratChairoungdua Arthit - Glucose transporter type 4 (GLUT4), encoded by the gene, is the final effector of insulin-stimulated glucose uptake in insulin-sensitive tissues: skeletal muscle, adipose tissue, and cardiac muscle. Its dynamic localization, retained intracellularly under basal conditions and extensively translocated to the plasma membrane upon stimulation, makes it a master regulator of glycemic homeostasis. While the canonical insulin pathway (PI3K/Akt/TBC1D4) is the most potent and specific mechanism in the postprandial state, its dysfunction is centrally associated with insulin resistance and type 2 diabetes mellitus (T2DM). Crucially, robust alternative signaling networks function completely independently of insulin to regulate GLUT4 synthesis and translocation. Prominent among these are contraction-mediated pathways in skeletal muscle, which employ calcium signaling (via CaMKII), mechanical/metabolic stress sensors (via p38 MAPK γ/δ), and AMP-activated protein kinase (AMPK). This review critically integrates current knowledge, linking the molecular architecture and post-translational modifications of GLUT4 to the complex, tissue-specific signaling networks that govern its vesicular trafficking. We emphasize the hierarchy, redundancy, and interdependence of these pathways, highlighting differences between acute translocation and chronic transcriptional adaptations. Finally, we discuss how deciphering insulin-independent mechanisms offers promising therapeutic opportunities, particularly in identifying pharmacological targets that mimic the metabolic benefits of physical exercise. - Source: PubMed
Publication date: 2026/04/13
Ramos-Jiménez ArnulfoRubio-Valles MariazelGuereca-Arvizuo JaimeJuárez-Oropeza Marco ARamos-Hernández Javier AChávez-Guevara Isaac AGonzález-Rodríguez EverardoMoreno-Brito VerónicaHernández Torres Rosa P - Homozygous carriers of a loss-of-function variant in the sucrase-isomaltase (SI) gene (c.273_274delAG) are unable to digest sucrose and parts of starch. The variant is common only in Indigenous Arctic populations such as the Greenlandic Inuit and has been associated with a healthier metabolic profile. In a unique gene-diet intervention, we aimed to study whether the SI genotype modulates the effect of two different diets on glucose homeostasis and lipids. - Source: PubMed
Publication date: 2026/04/17
Senftleber NinnaChristensen Marie Mathilde BCarstensen BendixStæger Frederik FilipFrøst Michael BGillum Matthew PHansen TorbenJørgensen Marit E