2024年12月24日 · ABHD5 (Abhydrolase Domain Containing 5, Lysophosphatidic Acid Acyltransferase) is a Protein Coding gene. Diseases associated with ABHD5 include Chanarin-Dorfman Syndrome and Ichthyosis. Among its related …

2017年2月17日 · Alpha-beta hydrolase domain-containing 5 (ABHD5), the defective gene in human Chanarin-Dorfman syndrome, is a highly conserved regulator of adipose triglyceride lipase...

2022年2月16日 · Alpha/beta hydrolase domain-containing protein 5 (ABHD5) is a highly conserved protein that regulates various lipid metabolic pathways via interactions with members of the perilipin...

The ABHD5 gene provides instructions for making a protein that turns on (activates) an enzyme called adipose triglyceride lipase (ATGL). Learn about this gene and related health conditions.

The α/β-Hydrolase domain-containing protein 5 (ABHD5; also known as comparative gene identification-58, or CGI-58) is the causative gene of the Chanarin-Dorfman syndrome (CDS), a disorder mainly characterized by systemic triacylglycerol accumulation ...

2025年2月8日 · ABHD5 is a potential therapeutic target against metastatic castration-resistant prostate cancer. The results here report on three patients with mutations in the ichthyosis-related gene, ABHD5 involved in lipid metabolism, presenting with erythrokeratoderma.

ABHD5 is the causative gene mutated in human Chanarin-Dorfman Syndrome, also known as Neutral Lipid Storage Disease with Ichthyosis (NLSDI), a rare, autosomal recessive non-lysosomal disorder of ectopic triacylglycerol accumulation [28, 29].

2024年5月16日 · ABHD5 functions as an acyltransferase for the synthesis of phosphatidic acid, the major intermediate in membrane and storage lipid biosynthesis. It also functions as a coactivator of adipocyte triglyceride lipase (ATGL, or PNPLA2; 609059) (Ghosh et al., 2008).

2022年6月28日 · Alpha/beta hydrolase domain-containing 5 (ABHD5), also termed CGI-58, is the key upstream activator of adipose triglyceride lipase (ATGL), which plays an essential role in lipid metabolism and energy storage. Mutations in ABHD5 disrupt lipolysis and are known to cause the Chanarin-Dorfman syndrome.

2019年11月15日 · ABHD5 levels are reduced in failing human hearts, and murine transgenic ABHD5 expression protects against pressure-overload-induced heart failure. These findings represent a conceptual advance...