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heterozygous mutations (c.738-2A>G and c.929T>C (p.Met310Thr)) in LIAS.
Patients with LIAS nonketotic hyperglycinemia varied in disease severity and cortical involvement.
We identified the homozygous mutation c.746G>A (p.Arg249His) in LIAS in an individual with neonatal-onset epilepsy, muscular hypotonia, lactic acidosis, and elevated glycine concentration in plasma and urine
Lipoic acid synthetase deficiency results in an overall disturbance in the antioxidant defense network, leading to increased inflammation, insulin (show INS ELISA Kits) resistance, and mitochondrial dysfunction.
Decreased endogenous lipoic acid gene expression plays a role in development of diabetic atherosclerosis in ApoE (show APOE ELISA Kits) deficient mice.
Lias deficiency enhances atherosclerosis in male mice, at least in part due to reduced antioxidant capacity
Development of homozygous embryos lacking Lias is retarded.
Enhanced neutrophil sequestration in the livers of Lias+/- mice was associated with increased hepatocyte injury and increased gene expression of growth-related oncogene (show RAB1A ELISA Kits), E-selectin (show SELE ELISA Kits), and VCAM-1 (show VCAM1 ELISA Kits) in the liver and/or lung.
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.
lipoic acid synthetase
, lipoate synthase
, lipoyl synthase, mitochondrial
, lipoic acid synthase
, Lipoate synthase
, Lipoic acid synthase