The LIAS Antibody (PACO10247) offered by Assay Genie is a high-quality polyclonal antibody designed for research involving the LIAS protein. LIAS, also known as lipoic acid synthetase, is an enzyme involved in the biosynthesis of lipoic acid, a critical cofactor for several mitochondrial enzyme complexes.This antibody, raised in rabbits, is highly specific and reactive with human samples, making it suitable for a variety of research applications, including Western blotting and immunohistochemistry. By binding to the LIAS protein, this antibody enables accurate detection and analysis of LIAS expression in various cell types and tissues.
The LIAS Antibody is a valuable tool for researchers studying mitochondrial function, metabolic diseases, and lipoic acid metabolism. Understanding the role of LIAS in these processes can provide insights into the pathophysiology of various diseases, as well as potential therapeutic targets for treatment. Trust Assay Genie's LIAS Antibody for reliable and reproducible results in your research endeavors.
LIAS: Catalyzes the radical-mediated insertion of two sulfur atoms into the C-6 and C-8 positions of the octanoyl moiety bound to the lipoyl domains of lipoate-dependent enzymes, thereby converting the octanoylated domains into lipoylated derivatives. Defects in LIAS are a cause of pyruvate dehydrogenase lipoic acid synthetase deficiency (PDHLD). PDHLD is an enzymatic defect resulting in an autosomal recessive disorder of mitochondrial metabolism. It is characterized by early-onset lactic acidosis, severe encephalomyopathy, and a pyruvate oxidation defect. Affected individuals have neonatal-onset epilepsy, poor growth, psychomotor retardation, muscular hypotonia, lactic acidosis, and elevated glycine concentration in plasma and urine. Belongs to the radical SAM superfamily. Lipoyl synthase family.Protein type: Cofactor and Vitamin Metabolism - lipoic acid; Transferase; EC 2.8.1.8; MitochondrialChromosomal Location of Human Ortholog: 4p14Cellular Component: mitochondrial matrix; mitochondrionMolecular Function: lipoate synthase activityBiological Process: glyoxylate metabolic process; inflammatory response; lipoate biosynthetic process; protein lipoylation; response to lipopolysaccharide; response to oxidative stressDisease: Pyruvate Dehydrogenase Lipoic Acid Synthetase Deficiency
UniProt Protein Details:
NCBI Summary:
The protein encoded by this gene belongs to the biotin and lipoic acid synthetases family. It localizes in mitochondrion and plays an important role in alpha-(+)-lipoic acid synthesis. It may also function in the sulfur insertion chemistry in lipoate biosynthesis. Alternative splicing occurs at this locus and two transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Jul 2008]
