ABHD12 Antibody
- Known as:
- ABHD12 Antibody
- Catalog number:
- AF1015a
- Product Quantity:
- 0.1mg
- Category:
- -
- Supplier:
- Abgen
- Gene target:
- ABHD12 Antibody
Related genes to: ABHD12 Antibody
- Gene:
- ABHD12 NIH gene
- Name:
- abhydrolase domain containing 12
- Previous symbol:
- C20orf22
- Synonyms:
- DKFZP434P106, dJ965G21.2, BEM46L2, ABHD12A
- Chromosome:
- 20p11.21
- Locus Type:
- gene with protein product
- Date approved:
- 2001-06-21
- Date modifiied:
- 2018-09-25
Related products to: ABHD12 Antibody
Related articles to: ABHD12 Antibody
- PHARC (polyneuropathy, hearing loss, ataxia, retinitis pigmentosa and cataracts) syndrome is a rare neurodegenerative inherited disorder characterized by a spectrum of these clinical phenotypes. Due to the considerable heterogeneity in the age of onset of the different clinical features and the similarities with other conditions, it is often misdiagnosed. Variants in the gene have been identified as a genetic cause of PHARC syndrome and are predicted to result in loss-of-function or severely reduced protein synthesis. ABHD12 (α/β-hydrolase domain-containing protein 12) is responsible for the breakdown of very-long-chain lysophosphatidylserines (VLC-lyso-PS). When ABHD12 is dysfunctional, VLC-lyso-PS accumulates in the brain, producing inflammation. In this study, the clinical phenotypes of five patients with molecularly confirmed pathogenic variants from Moorfields Eye Hospital together with those of 64 patients reported in the literature were analyzed to investigate genotype-phenotype correlations. We report a novel variant c.985del p.(His329Thrfs*57) associated with PHARC syndrome. Moreover, patients with two null variants in manifest more of the clinical features of PHARC syndrome than those with at least one missense variant. Our study shows the importance of a complete clinical and genetic diagnosis to enable accurate diagnosis and genetic counselling for affected individuals. - Source: PubMed
Publication date: 2026/08/21
Romero-Vázquez SaraMéjécase CécileRodriguez-Martinez Ana CatalinaCronbach NicolaMoosajee Mariya - Arachidonic acid (AA) metabolism plays essential roles in inflammation, tissue regeneration, immune regulation, and tumorigenesis. However, the prognostic significance of genetic variants in AA metabolism genes for hepatitis B virus (HBV)-related hepatocellular carcinoma (HCC) remains unclear. We analyzed 56 AA metabolism-related genes in 866 HBV-HCC patients using Cox proportional hazards regression, with Bayesian false discovery probability and false positive report probability for multiple testing correction. Two independent SNPs, CYP2A6 rs28399433 A > C (HR = 1.30, 95% CI = 1.07-1.58, P = 0.008) and ABHD12 rs3827014 C > T (HR = 0.69, 95% CI = 0.52-0.93, P = 0.013), were identified. A genetic score combining protective alleles showed a dose-dependent association with improved overall survival (P<0.001), with significant multiplicative interactions with smoking (P=0.016) and alcohol consumption (P=0.049), and additive interactions for smoking (RERI = 0.65, 95% CI = 0.10-1.19) and BCLC stage B/C (RERI = 1.25, 95% CI = 0.17-2.33). Functional validation with luciferase reporter assays demonstrated allele-specific effects on gene expression (P < 0.001). Lower CYP2A6 and higher ABHD12 levels in HCC tissues compared to normal were observed in the UALCAN database (P = 6.43 × 10⁻⁷ for CYP2A6; P < 1.00 × 10⁻¹² for ABHD12) and in 103 paired tumor/normal tissues. Survival analysis using the KMplot database indicated that decreased CYP2A6 and increased ABHD12 expression were associated with poorer survival (P < 0.001 and P = 0.008, respectively). These findings suggest that functional variants in CYP2A6 and ABHD12 may serve as novel survival biomarkers for HBV-HCC by regulating gene expression. - Source: PubMed
Publication date: 2026/05/23
Peng JunzhengLin QiulingZhou ZihanWen QiupingMo QiuyanJiang YanjiChen PeiqinLiu YingchunYu HongpingWei Xiaoxia - ABHD12 is linked to cancer and neurodegeneration; we systematically characterized its pan-cancer role and validated its oncogenic function in breast cancer (BRCA) to guide mechanistic studies. - Source: PubMed
Publication date: 2026/04/29
Zhao JiaweiGou YutingWang YiyangLi YongxiangMa HaotianXing YitingPeng HaohaoGuo Chenming - Microglia, the brain's macrophages, dynamically reprogram their metabolism to acquire appropriate and unique states to coordinate neuroinflammatory responses. Lipid metabolism, such as endocannabinoid signaling, is increasingly acknowledged for playing a central role in regulating these states. However, the enzymatic activities underlying these processes remain poorly characterized. Here, we combine activity-based protein profiling (ABPP) with targeted lipidomics to map lipid metabolism across distinct pro- and anti-inflammatory microglial states. We reveal stimulus-dependent remodeling of endocannabinoid metabolism, identifying DAGLβ and ABHD12 as key enzymes with opposing activity patterns. Correlation analysis across the differential expression and activity levels in microglial states revealed DAGLβ activity aligns with transcript and protein abundance, while ABHD12 activity is uncoupled from expression levels indicative of post-translational regulation. To enable cellular activity profiling, we developed a tailored ABHD12 probe (LEI-612), which demonstrated that cellular ABHD12 activity inversely correlated with 2-AG levels. Pharmacological inhibition of ABHD12 with DO264 elevated 2-AG, reduced AA, and modulated cytokine release through dual mechanisms: CB2R-dependent suppression of TNF-α and PGE2-dependent regulation of IL-6. Our integrated chemical proteomics and lipidomics approach highlights the importance of activity-based profiling of enzymes in defining microglial states and uncover ABHD12 as a key regulator of 2-AG metabolism and microglial immune function. - Source: PubMed
Publication date: 2026/04/15
van Egmond NoëlleJalink Elisabeth Avan der Vliet DaanHenselijn Anniek JRidder Marleen EGagestein BerendStevens Anna Fvan Kasteren Sander Ivan der Stelt Mario - Allergic diseases, including allergic asthma (AA), allergic rhinitis (AR), atopic dermatitis (AD), and allergic conjunctivitis (AC), often coexist. However, the specific inflammatory mediators driving their shared mechanisms remain unclear. This study explored causal relationships and identified multiomic mediators among allergic diseases using Mendelian randomization (MR). - Source: PubMed
Zhang Ping-AnWang Jie-LinFu Shi-YanLuo Hua-LianLi Nai-JianQin Run-DongLi Jing