Ask about this productRelated genes to: ABHD5 Blocking Peptide
- Gene:
- ABHD5 NIH gene
- Name:
- abhydrolase domain containing 5
- Previous symbol:
- -
- Synonyms:
- CGI-58, NCIE2
- Chromosome:
- 3p21.33
- Locus Type:
- gene with protein product
- Date approved:
- 2003-06-16
- Date modifiied:
- 2019-04-23
Related products to: ABHD5 Blocking Peptide
Related articles to: ABHD5 Blocking Peptide
- - Source: PubMed
Publication date: 2026/03/25
Schratter MargaritaRadner Franz P W - Non-epidermolytic ichthyosis (NEI) is a hereditary skin disorder affecting several dog breeds, most notably the Golden Retriever. It is primarily caused by a loss-of-function variant in the PNPLA1 gene, while a second, less common form is associated with a deletion in the ABHD5 gene. This retrospective study aimed to assess the prevalence and temporal trends of both mutations in Golden Retrievers tested in Italy between 2017 and September 2025. A total of 508 genetic tests were analyzed, including 463 dogs tested for the PNPLA1 mutation, 42 for the ABHD5 deletion, and 3 for both variants. DNA was extracted from blood or buccal samples and analyzed by real-time PCR followed by confirmatory Sanger sequencing. Among the PNPLA1 tested dogs, 42% were clears (wt/wt), 37% carriers (wt/mut), and 21% affected (mut/mut), with calculated allele frequencies of 60% wild-type and 40% mutant. A significant temporal decline in mutant allele frequency was observed, accompanied by an increasing number of animals tested over time, suggesting growing interest in genetic screening and its impact on selective breeding. Conversely, all dogs tested for the ABHD5 deletion were wild-type, supporting its rarity in the breed. Overall, these findings confirm that PNPLA1-related ichthyosis remains one of the most prevalent hereditary disorders in Golden Retrievers, although its frequency is decreasing. The results emphasize the effectiveness of genetic testing in disease prevention and highlight the importance of continued monitoring to maintain genetic health within the breed. - Source: PubMed
Publication date: 2026/03/24
De Iorio Maria GraziaPolli MicheleGhilardi SaraFrattini StefanoBagardi MaraPaganelli AlessandraCozzi Maria CristinaSeghrouchni KenzaBrambilla Paola GiuseppinaMinozzi Giulietta - To explore the genetic basis of a child with Chanarin-Dorfman syndrome (CDS) manifesting as ichthyosis. - Source: PubMed
Zhang MengyaoZheng KeShen KangjieJian XiaoqingLiu HongweiLi JianguoWang Jianbo - Cardiovascular diseases (CVDs) are among the leading causes of morbidity and mortality worldwide. In the cardiovascular system, lipids serve as a primary energy source, and dysregulated lipid metabolism has been observed in many CVDs. Lipid droplets (LDs) are organelles that store lipids, including triglycerides and cholesterol. The biogenesis and lipolysis of LDs broadly influence lipid metabolism in cells in the cardiovascular system and contribute to CVDs. LDs homeostasis is modulated by lipid droplet-associated proteins (LDAPs), such as PLINs, CIDEs, BSCL2, ABHD5, and Rab18. These proteins have also been reported to be involved in various CVDs. To our knowledge, this is the first review to systematically elucidate the associations between LDAPs and CVDs. Here, we summarize the roles of LDAPs in CVDs and discuss them in detail. - Source: PubMed
Publication date: 2026/02/25
Yu ZhongyangZhao MengXu HongyueJin XiaoxingSun Ji - Lipid metabolism sits at the heart of tumor initiation, progression, metastasis, and resistance to chemotherapy. Against this background, the regulation of lipid flux has emerged as a fertile ground for anticancer strategies. Chanarin-Dorfman syndrome (CDS), a rare genetic disorder marked by massive lipid droplet accumulation, offers compelling human evidence that α/β-hydrolase domain-containing protein 5 (ABHD5) plays a central role in lipid droplet mobilization through the ATGL axis. This clinical insight has, perhaps unexpectedly, pushed ABHD5 into the spotlight of cancer research. ABHD5 does not behave uniformly across malignancies. In many solid tumors-such as lung, liver, and renal cell carcinoma-it restrains tumor growth. Yet in other settings, notably endometrial cancer, it appears to fuel malignant progression. Colorectal and prostate cancers occupy a more ambiguous middle ground, where ABHD5 can tip the balance in either direction depending on context. Mechanistically, ABHD5 influences lipid homeostasis and cell fate by intersecting with signaling pathways including AMPK/mTOR, AKT, and NF-κB, thereby shaping proliferation, invasion, apoptosis, immune evasion, and drug responsiveness. This review brings together experimental and clinical evidence to map the diverse, sometimes contradictory roles of ABHD5 in cancer. By tracing its context-dependent functions and molecular circuits, we also explore its emerging value as a diagnostic marker and a therapeutic target-one that demands nuance rather than blunt intervention. - Source: PubMed
Publication date: 2026/02/10
Cai HuazhongChen HaoYe JiexingJin ZhesiHuang Pan