ACSL6
- Known as:
- ACSL6
- Catalog number:
- 001049A
- Product Quantity:
- 250ul
- Category:
- -
- Supplier:
- ABM
- Gene target:
- ACSL6
Related genes to: ACSL6
- Gene:
- ACSL6 NIH gene
- Name:
- acyl-CoA synthetase long chain family member 6
- Previous symbol:
- FACL6
- Synonyms:
- KIAA0837, ACS2, LACS5, LACS2
- Chromosome:
- 5q31.1
- Locus Type:
- gene with protein product
- Date approved:
- 2001-09-14
- Date modifiied:
- 2017-06-13
Related products to: ACSL6
Related articles to: ACSL6
- ETV6-rearranged acute lymphoblastic leukemia (ALL) is associated with poor prognosis in adults. Previously, a super-enhancer (SE) located within the ETV6 intragenic region (ETV6-SE) was identified in a rare fusion gene, ETV6::ACSL6, but further work is needed to determine whether ETV6-SE is broadly present in ALL and how ETV6 rearrangements impact the SE function. Here, we demonstrated that ETV6 functions as a regulatory element via ETV6-SE in ALL, with CDKN1B as a key target. CRISPR interference and knockout experiments revealed the core enhancer region within ETV6-SE responsible for CDKN1B regulation. ETV6 rearrangements disrupted ETV6-SE and impaired long-range chromatin interaction with the CDKN1B locus, leading to its downregulation that in turn activated the NF-κB pathway and increased expression of anti-apoptotic proteins BCL-2/BCL-XL. In patient-derived xenograft (PDX) models, pharmacological inhibition of BCL-2/BCL-XL using venetoclax or navitoclax showed additive effects when combined with dexamethasone. Collectively, these findings establish the ETV6-SE-CDKN1B regulatory axis as a mechanism contributing to treatment resistance in ETV6-rearranged ALL. - Source: PubMed
Publication date: 2026/07/29
Xu WenqianMa XiaofangSun XueSong GaoxianZhu ShuhanTian JieShi RuiruiGuo Linlang - Polygenic scores (PGSs) stratify disease risk but often fail to capture individual variation. "Misaligned" individuals, whose observed phenotypes deviate from their genetically expected values based on PGS, provide a powerful model for identifying factors beyond common-variant effects, including additional genetic factors. Here, we apply misalignment classification and enrichment testing frameworks to seven continuous traits and three diseases, assessing whether misaligned individuals in the UK Biobank are enriched for rare (minor-allele frequency [MAF] <0.1%) damaging genetic variation. We identified significant enrichment of predicted loss-of-function (pLoF) variants in COPB2 and GORAB among individuals with lower-than-expected bone mineral density. Regarding stature, shorter-than-expected individuals were enriched for pLoF variants in ACAN and IGF1, while taller-than-expected individuals showed enrichment for damaging missense variants in FBN1. Transitioning from validation to discovery, we performed an exome-wide scan for genes associated with misalignment and identified 74 significant genes, including KANK1, a gene which may have a protective role against primary ovarian insufficiency, and ACSL6, a lipid metabolism gene where damaging missense variation was associated with lower-than-expected BMI. For diseases, results supported a liability threshold model involving counteracting common and rare variant effects. Diagnosed type 2 diabetes mellitus patients with rare pathogenic variants in HNF1A and HNF4A possessed significantly lower polygenic risk than those without. Conversely, coronary artery disease controls harboring protective ANGPTL3 variants had nominally higher polygenic risk. This study highlights the power of misalignment-based analyses in complex continuous phenotypes and disease with the potential to validate known genetic contributors to traits and identify previously unassociated genes. - Source: PubMed
Publication date: 2026/06/22
Baya Nikolas ALassen Frederik HHill BarneyVenkatesh Samvida SCurrant HannahLindgren Cecilia MPalmer Duncan S - Acyl-CoA synthetase long-chain family member 6 (ACSL6) is a member of the long-chain acyl-CoA synthetase (ACSLs) family that is particularly expressed in nervous system. It mainly catalyzes the activation reaction of polyunsaturated fatty acids (PUFAs) such as docosahexaenoic acid (DHA), providing substrates for the synthesis and remodeling of neuronal membrane lipids. Recent studies have shown that ACSL6 plays a decisive role in DHA enrichment, synaptic plasticity and antioxidant defense in the brain. Its dysfunction can lead to changes in membrane lipid composition, weakened synaptic signals and excessive activation of neuroinflammation, thereby causing neurological deficits like cognitive and motor disorders. This review comprehensively summarizes the molecular structure characteristics and catalytic mechanism of ACSL6, and analyzes the roles of its different domains in substrate recognition and reaction regulation. ACSL6 participates in lipid metabolism by converting DHA into DHA-CoA, forming a local DHA metabolic pathway and providing continuous energy supply for the structural stability and signal transmission of nerve membranes. The localization characteristics of ACSL6 enable the spatial directional distribution of DHA in the synaptic membrane and endoplasmic reticulum regions, which is a key link in maintaining brain lipid homeostasis. In addition, ACSL6 is involved in the defense mechanisms of the nervous system by regulating oxidative stress responses, ferroptosis and inflammatory pathways. Its dysregulation has been confirmed to be associated with various neurodegenerative diseases. A thorough clarification of the molecular mechanism of ACSL6 may provide a new theoretical basis and highlight potential avenues for future therapeutic exploration regarding the imbalance of lipid homeostasis in neurons and related diseases. - Source: PubMed
Publication date: 2026/05/30
Zhang ShaoyangMeng FangyuYuan YuhangXiong HongyuMu FaqinLi XiangWu LingqiaoYang XiaopengLi XingyuMu YizheChen CeshiWu HuixinZhang Yuan - Kashin-Beck disease (KBD) is an endemic osteoarthropathy characterized by growth retardation and progressive joint degeneration. However, its systemic molecular features in peripheral blood remain incompletely understood. - Source: PubMed
Publication date: 2026/05/13
Guo MinghuiYang KunkunLiu ShizhangSun ZhengmingWu XueyuanLi XinpeiWang YuchaoZhu XinkeLing Ming - Colorectal cancer (CRC) is a highly aggressive and heterogeneous malignancy with a poor prognosis. Mitochondria and programmed cell death (PCD) play crucial roles in CRC tumorigenesis and cancer progression. However, the prognostic significance of mitochondrial programmed cell death (MPCD) remains unclear. This study aims to investigate prognostic value of MPCD-related genes. - Source: PubMed
Publication date: 2026/05/25
Jiang SanyaJin Yongjun